Canonical Allele Identifier: PA2826217127
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430788
ClinVar RCV Id: RCV000495870

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ser483_Val486dup
CA645373244
NM_001195803.2:c.1448_1459dup