ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000761
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369855
ClinVar RCV Id:
RCV000408811
RCV000816915
RCV001770290
RCV002411268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ile623Thr
CA037264
NM_001195798.2:c.1868T>C