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2026-08-07T10:00:00-0500
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2026-08-14T18:00:00-0500
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ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825112730
Gene: PKP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000290.2:p.Leu159Ile
CA1324096
NM_000299.4:c.475C>A