Canonical Allele Identifier: PA916000185
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000238586
ClinVar Variation:
251852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser486Gly
CA10585462
NM_001195798.2:c.1456A>G