ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827884919
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000414996
RCV000856744
ClinVar Variation:
374120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341541.1:p.Val519Ala
CA16043441
NM_001354612.2:c.1556T>C