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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:
PA2826128982
Gene: PCSK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218456
ClinVar RCV Id:
RCV000202686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171346.1:p.Glu298Ala
CA248885
NM_001177875.2:c.893A>C