Canonical Allele Identifier: PA916000463
Gene: LDLR HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly549Val
CA10585545
NM_001195798.2:c.1646G>T