ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828143155
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
546222
ClinVar RCV Id:
RCV000658068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351269.1:p.Arg79Pro
CA360424804
NM_001364340.2:c.236G>C