ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828147204
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
916475
ClinVar RCV Id:
RCV001172160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351286.1:p.Met125Val
CA360423173
NM_001364357.2:c.373A>G