Canonical Allele Identifier: PA2825693899
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 450192
ClinVar RCV Id: RCV000523223 RCV001829489 RCV002527605 RCV004023559
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg820Trp
CA1706191
NM_001130455.2:c.2458C>T