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: PA2825753617

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2716505

ClinVar RCV Id: RCV003577801

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124451.1:p.Val130Leu	CA347205458 NM_001130979.2:c.388G>C CA347205459 NM_001130979.2:c.388G>T