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: PA916035655

Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 235357

ClinVar RCV Id: RCV000224603 RCV000675098

ClinVar Variation Id: 383967

ClinVar RCV Id: RCV000426187 RCV000489872

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001339851.1:p.Phe225Leu