Canonical Allele Identifier: PA2826217348
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630375
ClinVar RCV Id: RCV000775614 RCV002442596 RCV004001455
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Met589Ile
CA039399
NM_001195803.2:c.1767G>A
CA404095809
NM_001195803.2:c.1767G>C
CA404095813
NM_001195803.2:c.1767G>T