ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829352763
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_002388.2:p.Arg251Cys
CA360423276
NM_002397.5:c.751C>T