Canonical Allele Identifier: PA645376873
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251370
ClinVar RCV Id: RCV000238427 RCV003741172
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys223Asn
CA10585058
NM_000527.5:c.669G>C
CA404078373
NM_000527.5:c.669G>T