Canonical Allele Identifier: PA2826216514
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV001251451
ClinVar Variation:
870321
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly269Arg
CA404083996
NM_001195803.2:c.805G>C