ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573186415
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1509293
ClinVar RCV Id:
RCV002040636
RCV002486679
RCV002458987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Arg814Trp
CA040769
NM_001195798.2:c.2440C>T