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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:
CA2187824589
Gene: CYP1A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74749791_74749793delinsCTG , CM000677.2:g.74749791_74749793delinsCTG
GRCh38
NC_000015.9:g.75042132_75042134delinsCTG , CM000677.1:g.75042132_75042134delinsCTG
GRCh37
NC_000015.8:g.72829185_72829187delinsCTG
NCBI36
NG_008431.1:g.32250_32252delinsCTG
NG_008431.2:g.32250_32252delinsCTG
NG_061543.1:g.5947_5949delinsCTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.53_55delinsCTG
MANE Select
ENSP00000342007.4:p.Ser18=
ENST00000343932.4:c.53_55delinsCTG
ENSP00000342007.4:p.Ser18=
NM_000761.4:c.53_55delinsCTG
NP_000752.2:p.Ser18=
NM_000761.5:c.53_55delinsCTG
MANE Select
NP_000752.2:p.Ser18=
Search 100 bp 5'
Search 100 bp 3'