Canonical Allele Identifier: PA645378834
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251881
ClinVar RCV Id: RCV000237901 RCV000775071 RCV001812661 RCV002392746
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val506Met
CA034649
NM_000527.5:c.1516G>A