Allele Registry

Canonical Allele Identifier: PA916031782

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000227312

RCV001011720

RCV003469120

ClinVar Variation:

236673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile490Val	CA6264818 NM_001351834.2:c.1468A>G