Canonical Allele Identifier: PA645375190
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 250969
ClinVar RCV Id: RCV000237500
ClinVar Variation Id: 440536
ClinVar RCV Id: RCV000508870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Met1Ile