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.
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Canonical Allele Identifier: PA1139715798

Gene: POLE HGNC NCBI

Linked Data

ClinVar Variation Id: 943412

ClinVar RCV Id: RCV003656531

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006222.2:p.Lys576Asn	CA387356343 NM_006231.4:c.1728G>T CA387356344 NM_006231.4:c.1728G>C