Canonical Allele Identifier: PA2826213765
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252136
ClinVar RCV Id: RCV000237688 RCV000786344 RCV001242724 RCV002418057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.His615Asn
CA037604
NM_001195799.2:c.1843C>A