Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2573165840

Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1687598

ClinVar RCV Id: RCV002251280

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Glu315Asp	CA342753739 NM_000298.5:c.945G>T CA342753741 NM_000298.5:c.945G>C