Canonical Allele Identifier: PA2825756002
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290515
ClinVar RCV Id: RCV000333472 RCV000812750
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124452.1:p.Gln252His
CA10606797
NM_001130980.2:c.756G>C
CA347207711
NM_001130980.2:c.756G>T