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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:
PA645498103
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402253
ClinVar RCV Id:
RCV000454274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071407.4:p.Glu1061Lys
CA16609571
NM_022124.6:c.3181G>A