Canonical Allele Identifier: PA2825752069
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 450192
ClinVar RCV Id: RCV000523223 RCV001829489 RCV002527605 RCV004023559
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Arg819Trp
CA1706191
NM_001130978.2:c.2455C>T