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: PA2825761996

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 284469

ClinVar RCV Id: RCV000596973 RCV000725459 RCV003736685

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124455.1:p.Val70Gly	CA10604804 NM_001130983.2:c.209T>G