ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211616
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161280
ClinVar RCV Id:
RCV000237748
RCV001176040
RCV002051673
RCV002444606
RCV002307407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Gly287Ser
CA023782
NM_000527.5:c.859G>A