ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741817257
Gene: PCSK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2629613
ClinVar RCV Id:
RCV003412255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000430.3:p.Arg78Lys
CA360485250
NM_000439.5:c.233G>A