Allele Registry

Canonical Allele Identifier: PA916031456

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000415796

RCV000544486

RCV002392942

ClinVar Variation:

374539

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val251Met	CA16043784 NM_001351834.2:c.751G>A