Allele Registry

Canonical Allele Identifier: PA2499251186

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001355826

ClinVar Variation:

1049558

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Tyr1252His	CA382524216 NM_001351834.2:c.3754T>C