Canonical Allele Identifier: PA2825767128
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471284
ClinVar RCV Id: RCV000547561 RCV000734858 RCV001834789 RCV002506358
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Val723Met
CA1706074
NM_001130985.2:c.2167G>A