Canonical Allele Identifier: PA915999794
Gene: LDLR HGNC NCBI
ClinVar Allele:
246053
ClinVar RCV:
RCV000237679
ClinVar Variation:
251739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu408Ala
CA10585363
NM_001195798.2:c.1223A>C