Allele Registry

Canonical Allele Identifier: PA916033450

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000580309

RCV001243455

ClinVar Variation:

489558

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu1775Ser	CA382543019 NM_001351834.2:c.5324T>C