Canonical Allele Identifier: PA1139697586
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977991
ClinVar RCV Id: RCV001255947
ClinVar Variation Id: 3231961
ClinVar RCV Id: RCV004518676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys160Ser
CA404076699
NM_001195798.2:c.478T>A
CA404076709
NM_001195798.2:c.479G>C