Allele Registry

Canonical Allele Identifier: PA916038048

Gene: EHMT1 HGNC NCBI

ClinVar RCV:

RCV000414996

RCV000856744

ClinVar Variation:

374120

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341540.1:p.Val550Ala	CA16043441 NM_001354611.2:c.1649T>C