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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:
PA2825164212
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1399075
ClinVar RCV Id:
RCV001922722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000402.3:p.Thr266Pro
CA10020615
NM_000411.8:c.796A>C