ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825895611
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194270
ClinVar RCV Id:
RCV000174602
RCV002517679
RCV001202984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138999.1:p.Ser680Leu
CA240154
NM_001145527.2:c.2039C>T