Canonical Allele Identifier: PA2826212777
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000238218
ClinVar Variation:
251537
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys272Arg
CA10585207
NM_001195799.2:c.814T>C