Canonical Allele Identifier: PA2826212957
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251669
ClinVar RCV Id: RCV000238320

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asn329Lys
CA10585308
NM_001195799.2:c.987C>G
CA404083431
NM_001195799.2:c.987C>A