Canonical Allele Identifier: PA2825767118
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283228
ClinVar RCV Id: RCV000725234 RCV001087666 RCV001271785
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Ala716Val
CA1706065
NM_001130985.2:c.2147C>T