ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828141539
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_001351263.1:p.Met267Val
CA360423173
NM_001364334.2:c.799A>G