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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:
PA2499267066
Gene: CDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1001939
ClinVar RCV Id:
RCV001298298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004351.1:p.Leu533Pro
CA396464985
NM_004360.5:c.1598T>C