Canonical Allele Identifier: PA913195432
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_000518.1:p.Met767Ile
CA039399
NM_000527.5:c.2301G>A
CA404095809
NM_000527.5:c.2301G>C
CA404095813
NM_000527.5:c.2301G>T