Canonical Allele Identifier: PA916000175
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251851
ClinVar RCV Id: RCV000238209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His485Gln
CA10585461
NM_001195798.2:c.1455C>G
CA404086146
NM_001195798.2:c.1455C>A