ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668367
Gene: PKP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000290.2:p.Arg602His
CA1324593
NM_000299.4:c.1805G>A