ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825894925
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283420
ClinVar RCV Id:
RCV000342270
RCV000541258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138999.1:p.Ala63Val
CA5374205
NM_001145527.2:c.188C>T