Canonical Allele Identifier: PA2573188608
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1386964
ClinVar RCV Id: RCV001905910
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser226Asn
CA2573155716
NM_001195798.2:c.676_677delinsAA