ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828146755
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206129
ClinVar RCV Id:
RCV000188145
RCV001291376
RCV002514022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351284.1:p.Arg15Cys
CA315916
NM_001364355.2:c.43C>T