Canonical Allele Identifier: PA2826217433
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2851350
ClinVar RCV Id: RCV003742188

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Trp632Cys
CA404098675
NM_001195803.2:c.1896G>C
CA404098681
NM_001195803.2:c.1896G>T