Canonical Allele Identifier: PA2826214527
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226337
ClinVar RCV Id: RCV000211683 RCV000786353 RCV001179372 RCV002372215
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser138Leu
CA10576291
NM_001195800.2:c.413C>T