ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000341
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
638890
ClinVar RCV Id:
RCV000791559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp525Ala
CA404086605
NM_001195798.2:c.1574A>C