ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826180476
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538815
ClinVar RCV Id:
RCV000648311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180279.1:p.Ala416Val
CA3337185
NM_001193350.2:c.1247C>T