Canonical Allele Identifier: PA2826215936
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 374956
ClinVar RCV Id: RCV000415715 RCV001178126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser681Leu
CA040999
NM_001195800.2:c.2042C>T