ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827818289
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194893
ClinVar RCV Id:
RCV000175367
RCV000334229
RCV002314606
RCV003917626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Ile892Val
CA241102
NM_001354263.2:c.2674A>G