ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066596
Gene: TJP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001163887.1:p.Arg234Trp
CA5073048
NM_001170416.2:c.700C>T