ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253933
Gene: PKP2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004563.2:p.Arg79Ter
NM_004572.4:c.235C>T