Allele Registry

Canonical Allele Identifier: PA645502284

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000488045

RCV000570011

RCV001834580

ClinVar Variation:

424993

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser1281Asn	CA16621627 NM_000051.4:c.3842G>A