Allele Registry

Canonical Allele Identifier: PA916034289

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166679

RCV000230377

RCV003338435

ClinVar Variation:

187003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg2436Lys	CA196452 NM_001351834.2:c.7307G>A