Allele Registry

Canonical Allele Identifier: PA916033165

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000628017

RCV000771752

RCV001306080

RCV001562374

RCV002334041

ClinVar Variation:

524317

627870

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val1538Leu	CA228379070 NM_001351834.2:c.4612G>T CA382534562 NM_001351834.2:c.4612G>C