Canonical Allele Identifier: PA915999246
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251526
ClinVar RCV Id: RCV000237783 RCV001854895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp307His
CA10585196
NM_001195798.2:c.919G>C
CA2695228128
NM_001195798.2:c.918_919delinsCC