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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:
PA913196122
Gene: RHO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
625298
ClinVar RCV Id:
RCV000767357
RCV002533923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000530.1:p.Tyr60His
CA2607077
NM_000539.3:c.178T>C