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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:
PA658680628
Gene: CDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479510
ClinVar RCV Id:
RCV000575835
RCV001247235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004351.1:p.Cys22Tyr
CA396451671
NM_004360.5:c.65G>A