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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:
PA2580405027
Gene: NOP10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1947972
ClinVar RCV Id:
RCV002663720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061118.1:p.Arg61Cys
CA391621938
NM_018648.4:c.181C>T