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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:
PA2826095554
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46042
ClinVar RCV Id:
RCV000039278
RCV000086977
RCV000273869
RCV000331245
RCV001276795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165403.1:p.Arg3Cys
CA137585
NM_001171932.2:c.7C>T