Canonical Allele Identifier: PA2826214547
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919009
ClinVar RCV Id: RCV001176933
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Glu144Asp
CA404081083
NM_001195800.2:c.432G>C
CA404081084
NM_001195800.2:c.432G>T