Allele Registry

Canonical Allele Identifier: PA157081

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000120124

RCV000159695

RCV000168026

RCV000656758

RCV001250428

RCV001356154

RCV004551177

ClinVar Variation:

133608

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp817His	CA157079 NM_000051.4:c.2449G>C