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: PA2826936818

Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 469350

ClinVar RCV Id: RCV000531379

ClinVar Variation Id: 2563164

ClinVar RCV Id: RCV003301325

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001295561.1:p.Ser136Pro	CA406972499 NM_001308632.1:c.406T>C CA658658857 NM_001308632.1:c.405_406delinsTC