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: PA2826408357

Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1775710

ClinVar RCV Id: RCV002405815

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243778.1:p.Met527Ile	CA406980905 NM_001256849.1:c.1581G>C CA406980906 NM_001256849.1:c.1581G>T CA406980907 NM_001256849.1:c.1581G>A