Canonical Allele Identifier: PA1139686663
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926076
ClinVar RCV Id: RCV001188426

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu14Phe
CA085656
NM_001195803.2:c.42G>C
CA404071663
NM_001195803.2:c.42G>T