ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA316686
Gene: POLG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206520
ClinVar RCV Id:
RCV000188572
RCV000758416
RCV001263312
RCV001270867
RCV002514034
RCV003985755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002684.1:p.Phe749Ser
CA316685
NM_002693.3:c.2246T>C