Canonical Allele Identifier: PA645477700
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 280068
ClinVar RCV Id: RCV000408314 RCV000802767 RCV001804995 RCV003469216
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124459.1:p.Arg1360Trp
CA1706889
NM_001130987.2:c.4078C>T