Allele Registry

Canonical Allele Identifier: PA645502812

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000218371

RCV000487259

RCV000555359

RCV002247648

RCV002500725

RCV004547534

ClinVar Variation:

230691

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser1490Gly	CA10579151 NM_000051.4:c.4468A>G