Canonical Allele Identifier: PA2499241812
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1061080
ClinVar RCV Id: RCV001370596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp54Ala
CA404074950
NM_001195803.2:c.161A>C