Canonical Allele Identifier: PA2825751407
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 286920
ClinVar RCV Id: RCV000342489 RCV001273965 RCV000793369
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Gly178Arg
CA1705397
NM_001130978.2:c.532G>A
CA347207062
NM_001130978.2:c.532G>C