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: PA915973462

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6679

ClinVar RCV Id: RCV000007066 RCV000342783 RCV001048974

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Gly551Arg	CA253913 NM_001130982.2:c.1651G>A CA347217356 NM_001130982.2:c.1651G>C