Canonical Allele Identifier: PA645377719
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000238218
ClinVar Variation:
251537
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys313Arg
CA10585207
NM_000527.5:c.937T>C