Allele Registry

Canonical Allele Identifier: PA337422

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000197770

RCV000218054

RCV003462316

ClinVar Variation:

216194

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Lys827Arg	CA337420 NM_000051.4:c.2480A>G