Canonical Allele Identifier: PA916001380
Gene: LDLR HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Tyr828Ser
CA10576335
NM_001195798.2:c.2483A>C