Canonical Allele Identifier: PA2826215550
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321220
ClinVar RCV Id: RCV003163918 RCV002227547
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gln492His
CA404093321
NM_001195800.2:c.1476G>C
CA404093322
NM_001195800.2:c.1476G>T