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: PA2825750024

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 196175

ClinVar RCV Id: RCV000176934 RCV000724183 RCV001050002 RCV001804906 RCV003468860

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124449.1:p.Tyr1000Cys	CA275155 NM_001130977.2:c.2999A>G