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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:
PA2742026094
Gene: PCSK9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2758749
ClinVar RCV Id:
RCV003500192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777596.2:p.Tyr38Cys
CA340482801
NM_174936.4:c.113A>G