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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:
PA2827654008
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1907
ClinVar RCV Id:
RCV000001984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339447.1:p.Leu237Pro
CA278018
NM_001352518.2:c.710T>C