Canonical Allele Identifier: PA2826215591
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440673
ClinVar RCV Id: RCV000508889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gly508Cys
CA404093548
NM_001195800.2:c.1522G>T