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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:
PA2826304290
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418249
ClinVar RCV Id:
RCV000484482
RCV001441245
RCV002525761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001229713.1:p.Arg302Ser