Canonical Allele Identifier: PA645510839
Gene: LDLR HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly396Asp
CA404084653
NM_000527.5:c.1187G>A