ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827813615
Gene: EHMT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000534589
RCV002395355
ClinVar Variation:
462979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341188.1:p.Gly447Glu
CA5374623
NM_001354259.2:c.1340G>A