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: PA2829397891

Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1024521

ClinVar RCV Id: RCV001324718

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002684.1:p.Gln47_Gln55dup	CA716918173 NM_002693.3:c.132_158dup