Canonical Allele Identifier: PA1139686721
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920364
ClinVar RCV Id: RCV001179044

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ser41Phe
CA305295229
NM_001195803.2:c.122C>T