ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828142729
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424592
ClinVar RCV Id:
RCV000479668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351267.1:p.Arg379Cys
CA16618217
NM_001364338.2:c.1135C>T