Canonical Allele Identifier: PA916000626
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_001182727.1:p.Val590_Asn591del
CA645509286
NM_001195798.2:c.1769_1774del