ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827884169
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
366001
ClinVar RCV Id:
RCV000320747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341540.1:p.Ser383Leu
CA5374508
NM_001354611.2:c.1148C>T