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: PA2825765285

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 804768

ClinVar RCV Id: RCV000991932

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124456.1:p.Leu1037Val	CA1706460 NM_001130984.2:c.3109C>G