Allele Registry

Canonical Allele Identifier: PA658743435

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000579619

RCV000779043

RCV003336057

ClinVar Variation:

489568

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu2068Ser	CA382551029 NM_000051.4:c.6203T>C