Canonical Allele Identifier: PA645376342
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251287
ClinVar RCV Id: RCV000237578 RCV001201350 RCV002347936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp178Glu
CA10584978
NM_000527.5:c.534T>G
CA404077082
NM_000527.5:c.534T>A