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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:
CA2804766251
Gene: CYP1A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74748931del , CM000677.2:g.74748931del
GRCh38
NC_000015.9:g.75041272del , CM000677.1:g.75041272del
GRCh37
NC_000015.8:g.72828325del
NCBI36
NG_008431.1:g.31390del
NG_008431.2:g.31390del
NG_061543.1:g.5087del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.-10+34del
MANE Select
ENSP00000342007.4:n.-10+34del
ENST00000343932.4:c.-10+34del
ENSP00000342007.4:n.-10+34del
NM_000761.4:c.-10+34del
NP_000752.2:n.-10+34del
NM_000761.5:c.-10+34del
MANE Select
NP_000752.2:n.-10+34del
Search 100 bp 5'
Search 100 bp 3'