Canonical Allele Identifier: PA2826214785
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926521
ClinVar RCV Id: RCV001189127 RCV004010341
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.His220Asn
CA032291
NM_001195800.2:c.658C>A