Canonical Allele Identifier: PA2826217370
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1789783
ClinVar RCV Id: RCV002448238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly601Ala
CA404096713
NM_001195803.2:c.1802G>C