Canonical Allele Identifier: PA2826216483
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251693
ClinVar RCV Id: RCV000238278 RCV002519846
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp259Glu
CA10585332
NM_001195803.2:c.777C>G
CA404083825
NM_001195803.2:c.777C>A