Canonical Allele Identifier: PA645377627
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000237933
ClinVar Variation:
251517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp304Tyr
CA10585188
NM_000527.5:c.910G>T