ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214924
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251770
ClinVar RCV Id:
RCV000237825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Leu264Pro
CA10585389
NM_001195800.2:c.791T>C