Allele Registry

Canonical Allele Identifier: PA916033807

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000575718

RCV001208530

RCV001779010

ClinVar Variation:

481290

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile2055Val	CA6265870 NM_001351834.2:c.6163A>G