ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826217139
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252064
ClinVar RCV Id:
RCV000237251
RCV002411095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Glu488Val
CA10585644
NM_001195803.2:c.1463A>T