Canonical Allele Identifier: PA2826216087
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1034427
ClinVar RCV Id: RCV001337149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp133Glu
CA404080004
NM_001195803.2:c.399C>A
CA404080005
NM_001195803.2:c.399C>G