ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825112765
Gene: PKP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2481139
ClinVar RCV Id:
RCV003199501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000290.2:p.Arg297Gly
CA1324229
NM_000299.4:c.889C>G