Canonical Allele Identifier: PA2825752325
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 336964
ClinVar RCV Id: RCV000278825 RCV000373211 RCV001140034
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124450.1:p.Thr1036Ile
CA1706444
NM_001130978.2:c.3107C>T