Canonical Allele Identifier: PA1139685561
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 921461
ClinVar RCV Id: RCV001180901

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser580Cys
CA404089700
NM_001195798.2:c.1739C>G