Canonical Allele Identifier: PA2825756925
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 497848
ClinVar RCV Id: RCV000593694 RCV001276440 RCV001034781
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Arg1101Cys
CA1706513
NM_001130980.2:c.3301C>T