Allele Registry

Canonical Allele Identifier: PA157124

Gene: ATM HGNC NCBI

ClinVar Allele:

137359

ClinVar RCV:

RCV000120140

RCV000166074

RCV000200014

RCV000656761

RCV003467069

ClinVar Variation:

133620

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu1553Ala	CA157122 NM_000051.4:c.4658A>C