ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718116
Gene: POLG
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002684.1:p.Cys418Arg
CA7724888
NM_002693.3:c.1252T>C