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: PA916035616

Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 638087

ClinVar RCV Id: RCV000790553

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339851.1:p.Tyr40Asn	CA401364635 NM_001352922.2:c.118T>A