Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826407555

Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1478333

ClinVar RCV Id: RCV002018982

ClinVar Variation Id: 1757846

ClinVar RCV Id: RCV002371040 RCV003776368

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243778.1:p.Phe241Leu	CA406974505 NM_001256849.1:c.721T>C CA406974516 NM_001256849.1:c.723C>A CA406974517 NM_001256849.1:c.723C>G