ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827817850
Gene: EHMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000179532
RCV001035612
ClinVar Variation:
198259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341192.1:p.Arg380Cys
CA246809
NM_001354263.2:c.1138C>T