ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830375205
Gene: PCSK9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1698493
ClinVar RCV Id:
RCV002271770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777596.2:p.Gly516Glu
CA340479777
NM_174936.4:c.1547G>A