Canonical Allele Identifier: PA2826216486
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070196
ClinVar RCV Id: RCV004010228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Pro260His
CA404083838
NM_001195803.2:c.779C>A