Canonical Allele Identifier: PA2826212772
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919009
ClinVar RCV Id: RCV001176933
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu271Asp
CA404081083
NM_001195799.2:c.813G>C
CA404081084
NM_001195799.2:c.813G>T