Canonical Allele Identifier: PA147744
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94300
ClinVar RCV Id: RCV000080265 RCV000526480 RCV001276438 RCV001699117
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg1022Gln
CA147743
NM_003494.4:c.3065G>A