ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999296
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251540
ClinVar RCV Id:
RCV000237523
RCV000791350
RCV002374402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys313Trp
CA030215
NM_001195798.2:c.939C>G