ClinGen Allele Registry
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Canonical Allele Identifier:
PA123151
Gene: POLG
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002684.1:p.Trp748Ser
NM_002693.3:c.2243G>C