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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:
PA916035403
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_001339443.1:p.Asp718Asn
CA278019
NM_001352514.2:c.2152G>A