ClinGen Allele Registry
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Canonical Allele Identifier:
PA915999570
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369848
ClinVar RCV Id:
RCV000408876
RCV002230212
RCV002275000
RCV002429335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys368Arg
CA10654849
NM_001195798.2:c.1102T>C