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: PA2825751350

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 94311

ClinVar RCV Id: RCV000080277 RCV000210633 RCV000499917 RCV000527027 RCV000675166 RCV001449935 RCV001573049 RCV003891555 RCV003993796

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124450.1:p.Gly128Glu	CA147747 NM_001130978.2:c.383G>A