Canonical Allele Identifier: PA2826215578
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3073652
ClinVar RCV Id: RCV004016658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg501Ser
CA404093475
NM_001195800.2:c.1503G>T
CA404093477
NM_001195800.2:c.1503G>C