Canonical Allele Identifier: PA2826215621
Gene: LDLR HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Pro517Gln
CA404093679
NM_001195800.2:c.1550C>A