Canonical Allele Identifier: PA916001026
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403644
ClinVar RCV Id: RCV000455095 RCV001192331
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser691Leu
CA038447
NM_001195798.2:c.2072C>T