Canonical Allele Identifier: PA2825747656
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 167021
ClinVar RCV Id: RCV000153178 RCV000668306 RCV003462058 RCV003329115
ClinVar Variation Id: 285702
ClinVar RCV Id: RCV000331425
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Trp916Cys
CA233931
NM_001130976.2:c.2748G>C
CA10605211
NM_001130976.2:c.2748G>T