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: PA2825769279

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2023880

ClinVar RCV Id: RCV002862900 RCV003146646

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Asp612Asn	CA1705980 NM_001130986.2:c.1834G>A