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: PA2825768541

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 501582

ClinVar RCV Id: RCV000596899

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124457.1:p.Cys1989Arg	CA347226529 NM_001130985.2:c.5965T>C