ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718347
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919035
ClinVar RCV Id:
RCV001176960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.His78Asn
CA384366677
NM_004572.4:c.232C>A