Canonical Allele Identifier: PA2825746745
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 502553
ClinVar RCV Id: RCV000596018 RCV000814681 RCV001829688 RCV002532670
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Asn43Lys
CA1705231
NM_001130976.2:c.129C>A
CA347216072
NM_001130976.2:c.129C>G