Allele Registry

Canonical Allele Identifier: PA658742372

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000580309

RCV001243455

ClinVar Variation:

489558

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu1775Ser	CA382543019 NM_000051.4:c.5324T>C