Allele Registry

Canonical Allele Identifier: PA916033465

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000588963

ClinVar Variation:

495393

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Phe1786Leu	CA382543291 NM_001351834.2:c.5356T>C CA382543311 NM_001351834.2:c.5358T>A CA382543316 NM_001351834.2:c.5358T>G