ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA135511
Gene: PKP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Ala236Ser
CA012450
NM_004572.4:c.706G>T