Allele Registry

Canonical Allele Identifier: PA2827629072

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000122819

RCV000485863

RCV000574147

ClinVar Variation:

135733

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser49Phe	CA332312 NM_001351834.2:c.146C>T