Canonical Allele Identifier: PA2825694757
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 282423
ClinVar RCV Id: RCV000340111 RCV001086001 RCV001820813 RCV001835749
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Ala1329Val
CA1706844
NM_001130455.2:c.3986C>T