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: PA337509

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 215980

ClinVar RCV Id: RCV000197870 RCV000215938 RCV000420030 RCV001250432

ClinVar Variation Id: 1929577

ClinVar RCV Id: RCV002635439 RCV003308193 RCV003482417

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2642Ser	CA337507 NM_000051.4:c.7926A>C CA382561528 NM_000051.4:c.7926A>T