ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123143
Gene: POLG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13503
ClinVar RCV Id:
RCV000014448
RCV000014447
RCV000020484
RCV000184009
RCV000188641
RCV000194055
RCV000262479
RCV000415105
RCV001004407
RCV001642225
RCV001678594
RCV001813742
RCV001813985
RCV001847602
RCV002272019
RCV002287334
RCV002313708
RCV002319423
RCV003458331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002684.1:p.Thr251Ile
CA123142
NM_002693.3:c.752C>T