ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827884753
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286417
ClinVar RCV Id:
RCV000346698
RCV000725838
RCV001055403
RCV001252236
RCV004021201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341541.1:p.Lys348Glu
CA5374504
NM_001354612.2:c.1042A>G