Allele Registry

Canonical Allele Identifier: PA916033831

Gene: ATM HGNC NCBI

ClinVar Allele:

482836

ClinVar RCV:

RCV000579619

RCV000779043

RCV003336057

ClinVar Variation:

489568

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu2068Ser	CA382551029 NM_001351834.2:c.6203T>C