Allele Registry

Canonical Allele Identifier: PA336647

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000196713

RCV000579724

RCV004553089

ClinVar Variation:

216234

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2719Leu	CA336645 NM_000051.4:c.8156G>T