Canonical Allele Identifier: PA2829467212
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 471294
ClinVar RCV Id: RCV000548061 RCV001829588
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003485.1:p.Ile1016Met
CA1706423
NM_003494.4:c.3048C>G