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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:
PA179900
Gene: CNGB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166899
ClinVar RCV Id:
RCV000153049
RCV000367023
RCV000331014
RCV001522470
RCV001275879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061971.3:p.Glu755Gly
CA179899
NM_019098.5:c.2264A>G