Canonical Allele Identifier: PA2826217122
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252052
ClinVar RCV Id: RCV000237416

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Phe482Leu
CA10585632
NM_001195803.2:c.1444T>C
CA404089853
NM_001195803.2:c.1446C>A
CA404089854
NM_001195803.2:c.1446C>G