Canonical Allele Identifier: PA916000888
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252137
ClinVar RCV Id: RCV000238234
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His656Gln
CA10585701
NM_001195798.2:c.1968C>G
CA404093265
NM_001195798.2:c.1968C>A