Allele Registry

Canonical Allele Identifier: PA2827817587

Gene: EHMT1 HGNC NCBI

ClinVar RCV:

RCV000238613

RCV000824396

RCV004020980

ClinVar Variation:

252744

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341192.1:p.Ser146Leu	CA5374304 NM_001354263.2:c.437C>T