Allele Registry

Canonical Allele Identifier: PA916032461

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000164299

RCV000235707

RCV000476746

RCV002247564

RCV003325192

ClinVar Variation:

184953

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg982His	CA190572 NM_001351834.2:c.2945G>A