Allele Registry

Canonical Allele Identifier: PA916035193

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000129025

RCV000199094

RCV000219679

RCV001199867

RCV002498640

RCV003315869

ClinVar Variation:

140832

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338765.1:p.Arg45Trp	CA163682 NM_001351836.2:c.133C>T