Allele Registry

Canonical Allele Identifier: PA337509

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000197870

RCV000215938

RCV000420030

RCV001250432

RCV002635439

RCV003308193

RCV003482417

ClinVar Variation:

215980

1929577

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