Allele Registry

Canonical Allele Identifier: PA645510490

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000506669

RCV000560983

RCV001308385

ClinVar Variation:

439419

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Phe1786Ser	CA382543300 NM_000051.4:c.5357T>C