Canonical Allele Identifier: PA2826217274
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070677
ClinVar RCV Id: RCV004013187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala542Thr
CA404094795
NM_001195803.2:c.1624G>A