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: PA2827168336

Gene: GSS HGNC NCBI

Linked Data

ClinVar Variation Id: 338298

ClinVar RCV Id: RCV000378758 RCV002379232 RCV003231443

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309423.1:p.Met319Ile	CA9825925 NM_001322494.1:c.957G>A CA408701144 NM_001322494.1:c.957G>T CA408701145 NM_001322494.1:c.957G>C