Canonical Allele Identifier: PA2826216243
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630875
ClinVar RCV Id: RCV000776890
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ile183Asn
CA404081069
NM_001195803.2:c.548T>A