Allele Registry

Canonical Allele Identifier: PA916033253

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000159767

RCV000213785

RCV000539303

RCV001194329

ClinVar Variation:

181998

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg1619Lys	CA298362 NM_001351834.2:c.4856G>A