ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828144755
Gene: MEF2C
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000479668
ClinVar Variation:
424592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351274.1:p.Pro368Leu
CA16618217
NM_001364345.2:c.1103C>T