ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828140951
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438583
ClinVar RCV Id:
RCV000656084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351261.1:p.Ser239Leu
CA3337223
NM_001364332.2:c.716C>T