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: PA2825620236

Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 167523

ClinVar RCV Id: RCV000153757 RCV000676331 RCV001080820 RCV002312682 RCV002492576

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119603.1:p.Gln54_Gln55del	CA295636 NM_001126131.2:c.153_158del CA2630256954 NM_001126131.2:c.159_164del