ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828145237
Gene: MEF2C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351276.1:p.Ser287Leu
CA3337223
NM_001364347.2:c.860C>T