Allele Registry

Canonical Allele Identifier: PA916031862

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000159684

RCV000219319

RCV000532840

ClinVar Variation:

181919

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met557Ile	CA298141 NM_001351834.2:c.1671G>A CA382535115 NM_001351834.2:c.1671G>C CA382535116 NM_001351834.2:c.1671G>T