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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:
PA2826958839
Gene: CDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182389
ClinVar RCV Id:
RCV000160381
RCV000458777
RCV001014024
RCV001192626
RCV003462087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304113.1:p.Ala67Gly
CA298962
NM_001317184.2:c.200C>G