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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2187824264
Gene: CYP1A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2063301681
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74749053_74749062dup , CM000677.2:g.74749053_74749062dup
GRCh38
NC_000015.9:g.75041394_75041403dup , CM000677.1:g.75041394_75041403dup
GRCh37
NC_000015.8:g.72828447_72828456dup
NCBI36
NG_008431.1:g.31512_31521dup
NG_008431.2:g.31512_31521dup
NG_061543.1:g.5209_5218dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.-10+156_-10+165dup
MANE Select
ENSP00000342007.4:n.-10+156_-10+165dup
ENST00000343932.4:c.-10+156_-10+165dup
ENSP00000342007.4:n.-10+156_-10+165dup
NM_000761.4:c.-10+156_-10+165dup
NP_000752.2:n.-10+156_-10+165dup
NM_000761.5:c.-10+156_-10+165dup
MANE Select
NP_000752.2:n.-10+156_-10+165dup
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