Allele Registry

Canonical Allele Identifier: PA916033056

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000165552

RCV000232578

RCV000780910

RCV001030530

RCV001589033

RCV002116295

ClinVar Variation:

186032

1628755

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser1455Arg	CA193670 NM_001351834.2:c.4365T>A CA382532056 NM_001351834.2:c.4363A>C CA382532063 NM_001351834.2:c.4365T>G