Allele Registry

Canonical Allele Identifier: PA916032621

Gene: ATM HGNC NCBI

ClinVar Allele:

180440

ClinVar RCV:

RCV000159762

RCV000215728

RCV000559406

RCV003467241

ClinVar Variation:

181993

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Thr1100Met	CA298348 NM_001351834.2:c.3299C>T