Canonical Allele Identifier: PA2825693268
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 287943
ClinVar RCV Id: RCV000726094 RCV001139795 RCV003155152 RCV001833380
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg388Trp
CA1705660
NM_001130455.2:c.1162C>T