Canonical Allele Identifier: PA2826216874
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251900
ClinVar RCV Id: RCV000238520
ClinVar Variation Id: 993226
ClinVar RCV Id: RCV001284640 RCV003284137 RCV003741255
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val396Leu
CA034835
NM_001195803.2:c.1186G>C
CA10585504
NM_001195803.2:c.1186G>T