Canonical Allele Identifier: PA2826217376
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375838
ClinVar RCV Id: RCV000417247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Lys604Asn
CA16602351
NM_001195803.2:c.1812G>C
CA404096764
NM_001195803.2:c.1812G>T