Canonical Allele Identifier: PA2826213545
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321219
ClinVar RCV Id: RCV002405316 RCV002227546 RCV002541095
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val537Phe
CA404089691
NM_001195799.2:c.1609G>T