Canonical Allele Identifier: PA2826212539
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 689347
ClinVar RCV Id: RCV000850043 RCV001213184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala191Ser
CA404079145
NM_001195799.2:c.571G>T