ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000019
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000238264
ClinVar Variation:
251790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Trp443Ser
CA10585407
NM_001195798.2:c.1328G>C