Canonical Allele Identifier: PA2826217239
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 979168
ClinVar RCV Id: RCV001258321 RCV001373185 RCV002418863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu527Pro
CA404093213
NM_001195803.2:c.1580T>C