Canonical Allele Identifier: PA2829468857
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 538643
ClinVar RCV Id: RCV000648015 RCV001276864 RCV002222581 RCV003144430
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Thr1831Met
CA1707445
NM_003494.4:c.5492C>T