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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA915989590

Gene: PNPLA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 240701

ClinVar RCV Id: RCV000228637

ClinVar Variation Id: 1517149

ClinVar RCV Id: RCV002027133

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159583.1:p.Met1266Ile	CA10583869 NM_001166111.2:c.3798G>T CA403137720 NM_001166111.2:c.3798G>A CA403137723 NM_001166111.2:c.3798G>C