ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573307919
Gene: PCSK9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1486316
ClinVar RCV Id:
RCV002003504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777596.2:p.Gln689Leu
CA340480938
NM_174936.4:c.2066A>T