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: PA658674778

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 452293

ClinVar RCV Id: RCV000520965 RCV001829524 RCV002528266

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124459.1:p.Ala2012Val	CA1707565 NM_001130987.2:c.6035C>T