ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827818686
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000082237
RCV000395808
RCV002362732
ClinVar Variation:
96161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Glu1276Ala
CA223778
NM_001354263.2:c.3827A>C