Canonical Allele Identifier: PA2826215380
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1684855
ClinVar RCV Id: RCV002247947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Thr429Asn
CA404089788
NM_001195800.2:c.1286C>A