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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:
PA2827652602
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1804678
ClinVar RCV Id:
RCV002469975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001339444.1:p.Asn570Lys