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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:
PA2826961870
Gene: CDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3064696
ClinVar RCV Id:
RCV003989181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304113.1:p.Ile505Arg
CA396465414
NM_001317184.2:c.1514T>G