Allele Registry

Canonical Allele Identifier: PA2827813779

Gene: EHMT1 HGNC NCBI

ClinVar RCV:

RCV000174602

RCV001202984

RCV002517679

ClinVar Variation:

194270

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341188.1:p.Ser649Leu	CA240154 NM_001354259.2:c.1946C>T