Canonical Allele Identifier: PA2826213712
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 548081
ClinVar RCV Id: RCV000660719 RCV000780384 RCV001835064
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Leu593Phe
CA404092789
NM_001195799.2:c.1777C>T