Allele Registry

Canonical Allele Identifier: PA223767

Gene: EHMT1 HGNC NCBI

ClinVar RCV:

RCV000082223

RCV000263726

RCV002426646

ClinVar Variation:

96147

HGVS (amino-acid)	Matching Registered Transcripts
NP_079033.4:p.Ser729Leu	CA223766 NM_024757.5:c.2186C>T