ClinGen Allele Registry
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Canonical Allele Identifier:
PA915998573
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183089
ClinVar RCV Id:
RCV000161959
RCV000237262
RCV001181335
RCV002345556
RCV004525832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Pro181Arg
CA023717
NM_001195798.2:c.542C>G