ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573249094
Gene: POLE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003772607
ClinVar Variation:
1370405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006222.2:p.Leu424Ile
CA387359534
NM_006231.4:c.1270C>A