ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139742507
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_001351267.1:p.Met285Val
CA360423173
NM_001364338.2:c.853A>G