Canonical Allele Identifier: PA2826217153
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252086
ClinVar RCV Id: RCV000237185
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Trp493Arg
CA10585657
NM_001195803.2:c.1477T>C
CA404092386
NM_001195803.2:c.1477T>A