Allele Registry

Canonical Allele Identifier: PA916034657

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000216939

RCV000628023

ClinVar Variation:

231276

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp2721His	CA10579285 NM_001351834.2:c.8161G>C