ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828146915
Gene: MEF2C
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000656084
ClinVar Variation:
438583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351284.1:p.Ser239Leu
CA3337223
NM_001364355.2:c.716C>T