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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:
PA2827654248
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1908
ClinVar RCV Id:
RCV000001985
RCV003328550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339447.1:p.Asp571Asn
CA278019
NM_001352518.2:c.1711G>A