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: PA2825622476

Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 206561

ClinVar RCV Id: RCV000188618 RCV000552872 RCV003230443

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119603.1:p.Met1116Val	CA316766 NM_001126131.2:c.3346A>G