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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:
PA2829974847
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2490187
ClinVar RCV Id:
RCV003206144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071407.4:p.Gly2697Ser
CA377162326
NM_022124.6:c.8089G>A