Allele Registry

Canonical Allele Identifier: PA2580203337

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV003038674

RCV003274157

ClinVar Variation:

2113247

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser712Pro	CA382538670 NM_001351834.2:c.2134T>C