Canonical Allele Identifier: PA916000616
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252014
ClinVar RCV Id: RCV000237764
ClinVar Variation Id: 441220
ClinVar RCV Id: RCV000509386
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His583Gln
CA10585596
NM_001195798.2:c.1749C>A
CA404089716
NM_001195798.2:c.1749C>G