Canonical Allele Identifier: PA2825770356
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94331
ClinVar RCV Id: RCV000080297 RCV000548178 RCV001271548 RCV002222381 RCV003466986 RCV004549503
ClinVar Variation Id: 2418333
ClinVar RCV Id: RCV003121082
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124458.1:p.Lys1585Asn
CA222176
NM_001130986.2:c.4755G>T
CA1707167
NM_001130986.2:c.4755G>C