Canonical Allele Identifier: PA2826212863
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977987
ClinVar RCV Id: RCV001255940 RCV001879947
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys299Phe
CA031192
NM_001195799.2:c.896G>T