ClinGen Allele Registry
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Canonical Allele Identifier:
PA916001268
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226394
ClinVar RCV Id:
RCV000211657
RCV001034620
RCV001553637
RCV001529505
RCV002444850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Val800_Leu802del
CA023662
NM_001195798.2:c.2397_2405del