ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118920
Gene: PKP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000290.2:p.Gln304Ter
NM_000299.4:c.910C>T