Canonical Allele Identifier: PA2825763044
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 447285
ClinVar RCV Id: RCV001239622 RCV000518215 RCV001834664 RCV003144306
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124455.1:p.Arg1047Cys
CA1706459
NM_001130983.2:c.3139C>T