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: PA2830306474

Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2081403

ClinVar RCV Id: RCV002994260

ClinVar Variation Id: 2519908

ClinVar RCV Id: RCV003284503

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_689632.2:p.Val584Ile	CA4737019 NM_152419.3:c.1750G>A CA2580078321 NM_152419.3:c.1749_1750delinsCA