Canonical Allele Identifier: PA2825694178
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6674
ClinVar RCV Id: RCV000007059 RCV000176869 RCV000790765 RCV001232546 RCV004525846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Trp1000Cys
CA222147
NM_001130455.2:c.3000G>T
CA347216658
NM_001130455.2:c.3000G>C