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: PA2825747139

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2162951

ClinVar RCV Id: RCV003070508 RCV003143482

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124448.1:p.Met394Leu	CA16609661 NM_001130976.2:c.1180A>C CA347213685 NM_001130976.2:c.1180A>T