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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:
PA658660076
Gene: PCSK9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468298
ClinVar RCV Id:
RCV000589661
RCV000771324
RCV001082736
RCV002395411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777596.2:p.Leu253Phe
CA044357
NM_174936.4:c.757C>T