Canonical Allele Identifier: PA2826215411
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1780766
ClinVar RCV Id: RCV002410359

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.His439Gln
CA404089844
NM_001195800.2:c.1317C>A
CA404089845
NM_001195800.2:c.1317C>G