Allele Registry

Canonical Allele Identifier: PA2827813832

Gene: EHMT1 HGNC NCBI

ClinVar RCV:

RCV000082223

RCV000263726

RCV002426646

ClinVar Variation:

96147

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341188.1:p.Ser698Leu	CA223766 NM_001354259.2:c.2093C>T