ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120012
Gene: MEF2C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001180279.1:p.Ser228Ter
NM_001193350.2:c.683C>A
NM_001193350.2:c.683C>G