Canonical Allele Identifier: PA2825767360
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 167021
ClinVar Variation Id: 285702
ClinVar RCV Id: RCV000331425

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Trp948Cys
CA233931
NM_001130985.2:c.2844G>C
CA10605211
NM_001130985.2:c.2844G>T