Allele Registry

Canonical Allele Identifier: PA916032759

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000120134

RCV000131218

RCV000476722

RCV000657063

RCV001020766

ClinVar Variation:

133616

824013

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met1210Ile	CA157107 NM_001351834.2:c.3630G>A CA6265328 NM_001351834.2:c.3630G>T CA382522877 NM_001351834.2:c.3630G>C