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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:
PA2826091205
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2141920
ClinVar RCV Id:
RCV003058793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165401.1:p.Met232Arg
CA5543518
NM_001171930.2:c.695T>G