Canonical Allele Identifier: PA915998622
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251315
ClinVar RCV Id: RCV000238282
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Phe200Leu
CA10585005
NM_001195798.2:c.600C>A
CA404077651
NM_001195798.2:c.598T>C
CA404077681
NM_001195798.2:c.600C>G