Canonical Allele Identifier: PA1139686762
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926987
ClinVar RCV Id: RCV001189924

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Tyr42Cys
CA404074783
NM_001195803.2:c.125A>G