Canonical Allele Identifier: PA2826214007
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630375
ClinVar RCV Id: RCV000775614 RCV002442596 RCV004001455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Met726Ile
CA039399
NM_001195799.2:c.2178G>A
CA404095809
NM_001195799.2:c.2178G>C
CA404095813
NM_001195799.2:c.2178G>T