Canonical Allele Identifier: PA2580170118
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1711462
ClinVar RCV Id: RCV002292978 RCV003097822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly396Ala
CA032971
NM_001195798.2:c.1187G>C