Canonical Allele Identifier: PA645375684
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000237881
ClinVar Variation:
251122
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp100Gly
CA10584833
NM_000527.5:c.299A>G