Canonical Allele Identifier: PA2826215541
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252137
ClinVar RCV Id: RCV000238234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.His488Gln
CA10585701
NM_001195800.2:c.1464C>G
CA404093265
NM_001195800.2:c.1464C>A