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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830470778
Gene: TJP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165416
ClinVar RCV Id:
RCV000152025
RCV000900846
RCV003927468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963923.1:p.Gln879Arg
CA178180
NM_201629.3:c.2636A>G