Allele Registry

Canonical Allele Identifier: PA196454

Gene: ATM HGNC NCBI

ClinVar Allele:

183387

ClinVar RCV:

RCV000166679

RCV000230377

RCV003338435

ClinVar Variation:

187003

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2436Lys	CA196452 NM_000051.4:c.7307G>A