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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:
PA2826096970
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1418812
ClinVar RCV Id:
RCV001940525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165404.1:p.Asp455Gly
CA377162318
NM_001171933.1:c.1364A>G