ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437428
Gene: POLG
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000436160
RCV003626620
ClinVar Variation:
380399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002684.1:p.Leu530Phe
CA16607913
NM_002693.3:c.1588C>T