Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825758856

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 283977

ClinVar RCV Id: RCV000271598 RCV000356959 RCV000366269 RCV000695150 RCV001271793 RCV002487214

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124453.1:p.Arg825Gln	CA1706183 NM_001130981.2:c.2474G>A