Allele Registry

Canonical Allele Identifier: PA916032165

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000159693

RCV000254631

RCV000472551

RCV001355809

RCV001704147

RCV003149969

ClinVar Variation:

181928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ala799Val	CA298164 NM_001351834.2:c.2396C>T