Canonical Allele Identifier: PA2826216437
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251669
ClinVar RCV Id: RCV000238320
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asn243Lys
CA10585308
NM_001195803.2:c.729C>G
CA404083431
NM_001195803.2:c.729C>A