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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:
PA2573171417
Gene: RHO
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1353422
ClinVar RCV Id:
RCV001885526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000530.1:p.Met155Thr
CA2607163
NM_000539.3:c.464T>C