Allele Registry

Canonical Allele Identifier: PA916032205

Gene: ATM HGNC NCBI

ClinVar Allele:

212852

ClinVar RCV:

RCV000197770

RCV000218054

RCV003462316

ClinVar Variation:

216194

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys827Arg	CA337420 NM_001351834.2:c.2480A>G