Canonical Allele Identifier: PA2825179900
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2763233
ClinVar RCV Id: RCV003583060
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys518Asn
CA404086573
NM_000527.5:c.1554G>C
CA404086574
NM_000527.5:c.1554G>T