ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830374540
Gene: PCSK9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3229294
ClinVar RCV Id:
RCV004524872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777596.2:p.Ser47Phe
CA340482853
NM_174936.4:c.140C>T