Allele Registry

Canonical Allele Identifier: PA157194

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000120165

RCV000159677

RCV000513410

RCV000527646

RCV000764936

RCV001030516

RCV001253154

ClinVar Variation:

133640

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ala220Val	CA157192 NM_000051.4:c.659C>T