ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000664
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252038
ClinVar RCV Id:
RCV000237978
RCV002411091
RCV002518489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp601His
CA10585619
NM_001195798.2:c.1801G>C