Allele Registry

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.

Canonical Allele Identifier: PA645497695

Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265327

ClinVar RCV Id: RCV000255649 RCV001358222 RCV002518758

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009125.1:p.Ile157Ser	CA10588724 NM_007194.4:c.470T>G