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: PA2828103430

Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1035086

ClinVar RCV Id: RCV001337904

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Met250Ile	CA339845731 NM_001363695.2:c.750G>T CA339845733 NM_001363695.2:c.750G>C CA339845735 NM_001363695.2:c.750G>A