ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826128921
Gene: PCSK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1700948
ClinVar RCV Id:
RCV002275437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171346.1:p.Asp47Asn
CA360485078
NM_001177875.2:c.139G>A