Canonical Allele Identifier: PA2826215363
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919923
ClinVar RCV Id: RCV001178399

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Asn423Ser
CA036573
NM_001195800.2:c.1268A>G
CA1139666274
NM_001195800.2:c.1268_1269delinsGT