ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109125
Gene: PCSK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
29080
ClinVar RCV:
RCV000015085
ClinVar Variation:
14041
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000430.3:p.Ser307Leu
CA123730
NM_000439.5:c.920C>T