ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954249
Gene: PKP1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001005337.1:p.Gln304Ter
NM_001005337.3:c.910C>T