Canonical Allele Identifier: PA2826213776
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321220
ClinVar RCV Id: RCV003163918 RCV002227547
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gln619His
CA404093321
NM_001195799.2:c.1857G>C
CA404093322
NM_001195799.2:c.1857G>T