Allele Registry

Canonical Allele Identifier: PA916032620

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000168114

RCV000214286

RCV000590021

RCV001354999

RCV001731417

RCV003462257

ClinVar Variation:

188196

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp1099Asn	CA334286 NM_001351834.2:c.3295G>A