Allele Registry

Canonical Allele Identifier: PA645499976

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000227312

RCV001011720

RCV003469120

ClinVar Variation:

236673

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ile490Val	CA6264818 NM_000051.4:c.1468A>G