Allele Registry

Canonical Allele Identifier: PA916033380

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000233443

RCV000481313

RCV000579553

RCV003469127

ClinVar Variation:

236730

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu1715Pro	CA6265633 NM_001351834.2:c.5144T>C