Canonical Allele Identifier: PA2825747772
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284003
ClinVar RCV Id: RCV000313635 RCV000666376 RCV000701610 RCV002494839
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124448.1:p.Pro1006Leu
CA1706432
NM_001130976.2:c.3017C>T