Allele Registry

Canonical Allele Identifier: PA916033675

Gene: ATM HGNC NCBI

Linked Data

ClinVar RCV:

RCV000130965

RCV000197688

RCV000212034

RCV000515322

RCV001269498

RCV001357333

RCV002288644

RCV003390822

RCV003483502

RCV003492610

RCV003492611

RCV004551259

ClinVar Variation:

142126

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys1964Glu	CA294264 NM_001351834.2:c.5890A>G