ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA308723
Gene: PKP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000183749
RCV000554161
RCV000621302
RCV001182739
RCV003996834
ClinVar Variation:
201988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Asn557Asp
CA011291
NM_004572.4:c.1669A>G