Canonical Allele Identifier: PA916001744
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 68099
ClinVar RCV Id: RCV000058916 RCV000210234 RCV000455660 RCV000776111 RCV002051650 RCV002390209 RCV003905026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala50Ser
CA023515
NM_001195803.2:c.148G>T