ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216814
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919898
ClinVar RCV Id:
RCV001178322
RCV002393393
RCV004006466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Ser372Cys
CA034538
NM_001195803.2:c.1115C>G