Canonical Allele Identifier: PA2825692726
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471280
ClinVar RCV Id: RCV000538326
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Trp53Arg
CA347216250
NM_001130455.2:c.157T>A
CA347216252
NM_001130455.2:c.157T>C