Canonical Allele Identifier: PA2825208480
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3071112
ClinVar RCV Id: RCV004014614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gln125His
CA404076315
NM_000527.5:c.375G>C
CA404076316
NM_000527.5:c.375G>T