Allele Registry

Canonical Allele Identifier: PA916033923

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000219813

RCV000449493

ClinVar Variation:

230391

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Tyr2129Asp	CA10579221 NM_001351834.2:c.6385T>G