ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891858886
Gene: PKP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Arg250Leu
CA038633
NM_004572.4:c.749G>T