ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000624
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183125
ClinVar RCV Id:
RCV000162000
RCV001804889
RCV002505198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp589His
CA023571
NM_001195798.2:c.1765G>C