ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828141293
Gene: MEF2C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351262.1:p.Arg393His
CA360422219
NM_001364333.2:c.1178G>A