Canonical Allele Identifier: PA2826213007
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926521
ClinVar RCV Id: RCV001189127 RCV004010341
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.His347Asn
CA032291
NM_001195799.2:c.1039C>A