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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:
PA2826096066
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4928
ClinVar RCV Id:
RCV000005211
RCV001261012
RCV001106128
RCV001205177
RCV002476931
RCV001831515
RCV003472978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001165403.1:p.Pro240Leu