ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA354541
Gene: PCSK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218456
ClinVar RCV Id:
RCV000202686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000430.3:p.Glu345Ala
CA248885
NM_000439.5:c.1034A>C