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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:
PA2826966204
Gene: CDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1790000
ClinVar RCV Id:
RCV002448398
RCV003101750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304115.1:p.Arg129Gly
CA396470999
NM_001317186.2:c.385C>G