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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:
PA658661665
Gene: RB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458175
ClinVar RCV Id:
RCV000531975
RCV002358465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000312.2:p.Gly203Trp
CA249269407
NM_000321.3:c.607G>T