Allele Registry

Canonical Allele Identifier: PA1139738649

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV001186214

ClinVar Variation:

924725

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu1775Phe	CA382543023 NM_001351834.2:c.5325A>C CA382543026 NM_001351834.2:c.5325A>T