ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123729
Gene: PCSK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015084
ClinVar Variation:
14039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000430.3:p.Ala213del
CA123727
NM_000439.5:c.638_640del