Canonical Allele Identifier: PA916001801
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440548
ClinVar RCV Id: RCV000508827
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys63Phe
CA404075130
NM_001195803.2:c.188G>T