ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA135473
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45057
ClinVar RCV Id:
RCV000038197
RCV000206028
RCV000242206
RCV000776016
RCV001618229
RCV003996378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Ser70Ile
CA011711
NM_004572.4:c.209G>T