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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:
PA2825797549
Gene: RPUSD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225005
ClinVar RCV Id:
RCV000210730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136019.2:p.His227Tyr
CA358256
NM_001142547.3:c.679C>T