Canonical Allele Identifier: PA2826215127
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926176
ClinVar RCV Id: RCV001188576
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val338Leu
CA404086496
NM_001195800.2:c.1012G>C
CA404086497
NM_001195800.2:c.1012G>T