Allele Registry

Canonical Allele Identifier: PA916033941

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000120154

RCV000131611

RCV000710676

RCV001080465

RCV002225364

RCV003149825

RCV003315729

ClinVar Variation:

133630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser2146Thr	CA157159 NM_001351834.2:c.6437G>C