ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827817761
Gene: EHMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
207683
ClinVar RCV:
RCV000194465
RCV000307829
RCV001575368
RCV002314814
ClinVar Variation:
210930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Lys295Arg
CA208650
NM_001354263.2:c.884A>G