Canonical Allele Identifier: PA916000595
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 438325
ClinVar RCV Id: RCV000505204 RCV001053021 RCV002404318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser580Phe
CA305301758
NM_001195798.2:c.1739C>T