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: PA658802819

Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 522769

ClinVar RCV Id: RCV000625930

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Thr271Met	CA401359955 NM_000199.5:c.812C>T