Canonical Allele Identifier: PA2826214943
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251778
ClinVar RCV Id: RCV000237902 RCV000489496 RCV001063423 RCV003372664
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val268Ala
CA033539
NM_001195800.2:c.803T>C