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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:
PA2826304808
Gene: HLCS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
898132
ClinVar RCV Id:
RCV001141810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229714.1:p.Thr251Ala
CA409912382
NM_001242785.2:c.751A>G