ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826179582
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310329
ClinVar RCV Id:
RCV001767443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180276.1:p.Arg269His
CA360423273
NM_001193347.1:c.806G>A