Canonical Allele Identifier: PA2826216451
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251678
ClinVar RCV Id: RCV000237556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Tyr248Ser
CA10585317
NM_001195803.2:c.743A>C