Allele Registry

Canonical Allele Identifier: PA2827884491

Gene: EHMT1 HGNC NCBI

ClinVar Allele:

247037

ClinVar RCV:

RCV000238613

RCV000824396

RCV004020980

ClinVar Variation:

252744

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341541.1:p.Ser115Leu	CA5374304 NM_001354612.2:c.344C>T