Canonical Allele Identifier: PA2826213582
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440660
ClinVar RCV Id: RCV000508964
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val549_Asn550del
CA645509286
NM_001195799.2:c.1646_1651del