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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:
PA2827654015
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369667
ClinVar RCV Id:
RCV000408618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001339447.1:p.Gly241Ala