ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828098015
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1720584
ClinVar RCV Id:
RCV002298302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350510.1:p.Asn249Ser
CA360423288
NM_001363581.2:c.746A>G