Canonical Allele Identifier: PA2826216832
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926176
ClinVar RCV Id: RCV001188576

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val379Leu
CA404086496
NM_001195803.2:c.1135G>C
CA404086497
NM_001195803.2:c.1135G>T