Allele Registry

Canonical Allele Identifier: PA645502728

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000215942

RCV000473821

RCV000486909

RCV000552264

RCV003462488

RCV003491980

ClinVar Variation:

232191

453508

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Thr1399Ser	CA10579137 NM_000051.4:c.4196C>G CA382530327 NM_000051.4:c.4195A>T