Canonical Allele Identifier: PA2825754819
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 452908
ClinVar RCV Id: RCV000765698 RCV000727399 RCV001485096 RCV001563734 RCV001563735 RCV001272834
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124451.1:p.Pro1245Leu
CA1706667
NM_001130979.2:c.3734C>T