Canonical Allele Identifier: PA2499241811
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 996231
ClinVar RCV Id: RCV001290542 RCV002227267
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp47Tyr
CA404074852
NM_001195803.2:c.139G>T