Canonical Allele Identifier: PA2825692764
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284573
ClinVar RCV Id: RCV000293243 RCV002519155
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Ala85Val
CA1705297
NM_001130455.2:c.254C>T