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: PA111114

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 381677

ClinVar RCV Id: RCV000424011 RCV000671182 RCV001861509 RCV003470383

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Pro1970Ser	CA16604254 NM_003494.4:c.5908C>T