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: PA916032062

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 245775

ClinVar RCV Id: RCV000235738 RCV001014539 RCV001313734

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile709Phe	CA10584329 NM_001351834.2:c.2125A>T