Canonical Allele Identifier: PA2825208404
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 998055
ClinVar RCV Id: RCV001293742 RCV001813822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys68Phe
CA404075526
NM_000527.5:c.203G>T