Allele Registry

Canonical Allele Identifier: PA645500793

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000221159

RCV000627858

RCV001306625

RCV002457967

ClinVar Variation:

229698

524238

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser794Arg	CA10579052 NM_000051.4:c.2380A>C CA382541027 NM_000051.4:c.2382T>A CA382541030 NM_000051.4:c.2382T>G