Canonical Allele Identifier: PA2825769357
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290178
ClinVar RCV Id: RCV000304844 RCV000804560 RCV000726444 RCV001279899
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Thr689Met
CA1706069
NM_001130986.2:c.2066C>T