Canonical Allele Identifier: PA2826215742
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3069245
ClinVar RCV Id: RCV004007789
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg576Trp
CA2825002701
NM_001195800.2:c.1726_1728delinsTGG