Canonical Allele Identifier: PA645377678
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000238284
ClinVar Variation:
251527
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp307Glu
CA10585197
NM_000527.5:c.921T>G
CA404081054
NM_000527.5:c.921T>A