Canonical Allele Identifier: PA645477547
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6681
ClinVar RCV Id: RCV000007068 RCV000726614 RCV001388966 RCV003460431
ClinVar Variation Id: 837557
ClinVar RCV Id: RCV001038919
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Gly331Arg
CA253916
NM_001130987.2:c.991G>A
CA49761605
NM_001130987.2:c.991G>C