Canonical Allele Identifier: PA2826214804
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251700
ClinVar RCV Id: RCV000237503
ClinVar Variation Id: 961072
ClinVar RCV Id: RCV001234707
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Lys225Asn
CA10585338
NM_001195800.2:c.675G>C
CA404083967
NM_001195800.2:c.675G>T