ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916070001
Gene: PCSK9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777596.2:p.Ser462Pro
CA036722
NM_174936.4:c.1384T>C