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: PA292846

Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 21313

ClinVar RCV Id: RCV000513124 RCV000545884

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002684.1:p.Arg1146Cys	CA292845 NM_002693.3:c.3436C>T