This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: PA645378318
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000238315
ClinVar Variation:
251753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg416Pro
CA10585375
NM_000527.5:c.1247G>C