Allele Registry

Canonical Allele Identifier: PA645501113

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000483479

RCV000558049

RCV000569986

RCV000821523

RCV002431497

RCV003470538

ClinVar Variation:

418904

453421

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp851Glu	CA16619142 NM_000051.4:c.2553T>G CA382543740 NM_000051.4:c.2553T>A