Canonical Allele Identifier: PA2825895349
Gene: EHMT1 HGNC NCBI
ClinVar RCV:
RCV000320747
ClinVar Variation:
366001
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138999.1:p.Ser383Leu
CA5374508
NM_001145527.2:c.1148C>T