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: PA2829468587

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 290354

ClinVar RCV Id: RCV000328882 RCV000557258 RCV001833407

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Thr1718Pro	CA1707307 NM_003494.4:c.5152A>C