Allele Registry

Canonical Allele Identifier: PA243496

Gene: EHMT1 HGNC NCBI

ClinVar RCV:

RCV000177339

RCV001484691

RCV002354457

ClinVar Variation:

196519

HGVS (amino-acid)	Matching Registered Transcripts
NP_079033.4:p.Asp197Asn	CA243495 NM_024757.5:c.589G>A