Allele Registry

Canonical Allele Identifier: PA2580206774

Gene: ATM HGNC NCBI

ClinVar Allele:

2176686

ClinVar RCV:

RCV003025027

RCV003358053

ClinVar Variation:

2120190

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg2719Pro	CA382562340 NM_001351834.2:c.8156G>C