Canonical Allele Identifier: PA2825760676
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94264
ClinVar RCV Id: RCV000080227 RCV000513692 RCV000670929 RCV001083703
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124454.1:p.Val406Leu
CA147717
NM_001130982.2:c.1216G>C
CA347213315
NM_001130982.2:c.1216G>T