Allele Registry

Canonical Allele Identifier: PA916032952

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000218537

RCV002516183

ClinVar Variation:

234248

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp1364Glu	CA10579133 NM_001351834.2:c.4092C>A CA382528484 NM_001351834.2:c.4092C>G