Canonical Allele Identifier: PA2826217246
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375825
ClinVar RCV Id: RCV000417314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asn530Lys
CA16602339
NM_001195803.2:c.1590C>A
CA404093287
NM_001195803.2:c.1590C>G