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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:
CA2629509232
Gene: CYP1A2
HGNC
NCBI
Linked Data
gnomAD v4:
15-74751846-A-AGGAGCTGGGTACATGGG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74751849_74751865dup , CM000677.2:g.74751849_74751865dup
GRCh38
NC_000015.9:g.75044190_75044206dup , CM000677.1:g.75044190_75044206dup
GRCh37
NC_000015.8:g.72831243_72831259dup
NCBI36
NG_008431.1:g.34308_34324dup
NG_008431.2:g.34308_34324dup
NG_061543.1:g.8005_8021dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1037_1042+11dup
ENST00000343932.4:c.1037_1042+11dup
NM_000761.4:c.1037_1042+11dup
NM_000761.5:c.1037_1042+11dup
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