Canonical Allele Identifier: PA916001641
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161272
ClinVar RCV Id: RCV000161949 RCV000211611 RCV000609054 RCV000771169 RCV002354338 RCV003952707 RCV002051665
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly20Arg
CA023728
NM_001195803.2:c.58G>A
CA404071839
NM_001195803.2:c.58G>C