Canonical Allele Identifier: PA2829466534
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 498346
ClinVar RCV Id: RCV000598052 RCV000648023 RCV001274446 RCV001526744
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Arg582Trp
CA1705929
NM_003494.4:c.1744C>T