ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001280
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183135
ClinVar RCV Id:
RCV000162015
RCV001182069
RCV003998539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Val800Ile
CA023664
NM_001195798.2:c.2398G>A