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: PA2825768764

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 970142

ClinVar RCV Id: RCV001245659

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124458.1:p.Ala130Thr	CA347205451 NM_001130986.2:c.388G>A