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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:
PA2826961804
Gene: CDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043223
ClinVar RCV Id:
RCV001347297
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304113.1:p.Thr499Lys
CA396465351
NM_001317184.2:c.1496C>A