Canonical Allele Identifier: PA2826216746
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430777
ClinVar RCV Id: RCV000495888
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Pro349Leu
CA404085964
NM_001195803.2:c.1046C>T