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: PA915973900

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6675

ClinVar RCV Id: RCV000007060 RCV000176936 RCV000763088 RCV000790688 RCV001229764

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001124454.1:p.Arg1078His	CA222152 NM_001130982.2:c.3233G>A