Canonical Allele Identifier: PA2825693326
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 291123
ClinVar RCV Id: RCV000313593 RCV001240422 RCV004021322
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123927.1:p.Asn412Lys
CA1705704
NM_001130455.2:c.1236C>A
CA347214779
NM_001130455.2:c.1236C>G