ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825772980
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
936112
ClinVar RCV Id:
RCV001204848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124477.1:p.Arg249Cys
CA360423276
NM_001131005.2:c.745C>T