Canonical Allele Identifier: PA2826215075
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000238586
ClinVar Variation:
251852
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser318Gly
CA10585462
NM_001195800.2:c.952A>G