Allele Registry

Canonical Allele Identifier: PA2827628536

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000168047

RCV000217445

RCV000235357

RCV003468822

ClinVar Variation:

188157

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg45Gln	CA334193 NM_001351834.2:c.134G>A