Canonical Allele Identifier: PA2825180297
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3071521
ClinVar RCV Id: RCV004016015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val590Ile
CA404089750
NM_000527.5:c.1768G>A