Allele Registry

Canonical Allele Identifier: PA916033330

Gene: ATM HGNC NCBI

ClinVar Allele:

151690

ClinVar RCV:

RCV000130731

RCV000205355

RCV000481018

RCV003461998

ClinVar Variation:

141976

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Pro1680Leu	CA166999 NM_001351834.2:c.5039C>T