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: PA2829466590

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2023880

ClinVar RCV Id: RCV002862900 RCV003146646

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Asp625Asn	CA1705980 NM_003494.4:c.1873G>A