Canonical Allele Identifier: PA916001820
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375777
ClinVar RCV Id: RCV000417354 RCV000791365
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys68Arg
CA16602294
NM_001195803.2:c.202T>C