Canonical Allele Identifier: PA2825181059
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074006
ClinVar RCV Id: RCV004012548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp748His
CA404095246
NM_000527.5:c.2242G>C