ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828141005
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_001351261.1:p.Ala336Val
CA3337185
NM_001364332.2:c.1007C>T