Canonical Allele Identifier: PA2825759022
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284254
ClinVar RCV Id: RCV000262612 RCV000725415 RCV000763505 RCV000791498 RCV003401245 RCV003469231
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124453.1:p.Arg976Trp
CA1706331
NM_001130981.2:c.2926C>T