Canonical Allele Identifier: PA2825695382
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 217227
ClinVar RCV Id: RCV000201092 RCV000553055 RCV000723532 RCV002509296 RCV003468915
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Arg1694Trp
CA279083
NM_001130455.2:c.5080C>T