Canonical Allele Identifier: PA2825767594
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 128947
ClinVar RCV Id: RCV000116927 RCV000532523 RCV001086595 RCV001826784
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124457.1:p.Arg1114His
CA152663
NM_001130985.2:c.3341G>A