ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827883984
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196519
ClinVar RCV Id:
RCV000177339
RCV002354457
RCV001484691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341540.1:p.Asp197Asn
CA243495
NM_001354611.2:c.589G>A