Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827690167

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)	Matching Registered Transcripts
NP_001339850.1:p.Phe225Leu	CA8817846 NM_001352921.3:c.675C>G CA16607531 NM_001352921.3:c.673T>C CA401361547 NM_001352921.3:c.675C>A