Canonical Allele Identifier: PA1139685585
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919923
ClinVar RCV Id: RCV001178399

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asn591Ser
CA036573
NM_001195798.2:c.1772A>G
CA1139666274
NM_001195798.2:c.1772_1773delinsGT