Canonical Allele Identifier: PA2826212142
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919411
ClinVar RCV Id: RCV001177560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp44Cys
CA404074818
NM_001195799.2:c.132G>C
CA404074819
NM_001195799.2:c.132G>T