Canonical Allele Identifier: PA2826215359
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440660
ClinVar RCV Id: RCV000508964

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val422_Asn423del
CA645509286
NM_001195800.2:c.1265_1270del