Canonical Allele Identifier: PA2825180460
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2835670
ClinVar RCV Id: RCV003741993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp622His
CA404092430
NM_000527.5:c.1864G>C