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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:
CA2629511954
Gene: CYP1A2
HGNC
NCBI
Linked Data
gnomAD v4:
15-74755123-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74755128del , CM000677.2:g.74755128del
GRCh38
NC_000015.9:g.75047469del , CM000677.1:g.75047469del
GRCh37
NC_000015.8:g.72834522del
NCBI36
NG_008431.1:g.37587del
NG_008431.2:g.37587del
NG_061543.1:g.11284del
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.*40del
MANE Select
ENSP00000342007.4:n.*40del
ENST00000343932.4:c.*40del
ENSP00000342007.4:n.*40del
NM_000761.4:c.*40del
NP_000752.2:n.*40del
NM_000761.5:c.*40del
MANE Select
NP_000752.2:n.*40del
Search 100 bp 5'
Search 100 bp 3'