ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216182
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251498
ClinVar RCV Id:
RCV000237605
RCV003456384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Lys167Glu
CA10585171
NM_001195803.2:c.499A>G