ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828143549
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310329
ClinVar RCV Id:
RCV001767443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351270.1:p.Arg251His
CA360423273
NM_001364341.2:c.752G>A