Canonical Allele Identifier: PA2825693026
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 500004
ClinVar RCV Id: RCV000598072 RCV000792953 RCV001535517 RCV003403397
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Pro234Leu
CA1705463
NM_001130455.2:c.701C>T