ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825895443
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2769016
ClinVar RCV Id:
RCV003503443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138999.1:p.Ala472Val
CA375765922
NM_001145527.2:c.1415C>T