Canonical Allele Identifier: PA2825750832
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 281237
ClinVar RCV Id: RCV000302512 RCV000547122 RCV001274105 RCV001531488
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124449.1:p.Arg1724Trp
CA1707306
NM_001130977.2:c.5170C>T