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: PA2825694302

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6675

ClinVar RCV Id: RCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001123927.1:p.Arg1047His