Canonical Allele Identifier: PA2826211965
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3069245
ClinVar RCV Id: RCV004007789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg744Trp
CA2825002701
NM_001195798.2:c.2230_2232delinsTGG