Canonical Allele Identifier: PA2826216545
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251738
ClinVar Variation Id: 2842836
ClinVar RCV Id: RCV003742073

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asn278Lys
CA10585362
NM_001195803.2:c.834C>G
CA404084705
NM_001195803.2:c.834C>A