Canonical Allele Identifier: PA916000671
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252043
ClinVar RCV Id: RCV000237562
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys603Asn
CA10585624
NM_001195798.2:c.1809G>C
CA404089823
NM_001195798.2:c.1809G>T