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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:
PA2826963752
Gene: CDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3224151
ClinVar RCV Id:
RCV004518877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304114.1:p.Asp12Asn
CA396464874
NM_001317185.2:c.34G>A