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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:
PA2826091202
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402247
ClinVar RCV Id:
RCV000454219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165401.1:p.Asp228Val
CA16609568
NM_001171930.2:c.683A>T