Canonical Allele Identifier: PA2828144137
Gene: MEF2C HGNC NCBI
ClinVar RCV:
RCV000656084
ClinVar Variation:
438583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001351272.1:p.Ser277Leu
CA3337223
NM_001364343.2:c.830C>T