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: PA291095

Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 137485

ClinVar RCV Id: RCV000125246 RCV000335583 RCV000400765 RCV000299444 RCV001573605

ClinVar Variation Id: 287768

ClinVar RCV Id: RCV000332595 RCV001651320 RCV000544497 RCV002502142

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000159.3:p.Ser1028Ile	CA291094 NM_000168.6:c.3083G>T CA10605864 NM_000168.6:c.3083_3084delinsTT