Canonical Allele Identifier: PA916001380
Gene: LDLR HGNC NCBI
ClinVar Allele:
228207
ClinVar RCV:
RCV000211561
ClinVar Variation:
226395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Tyr828Ser
CA10576335
NM_001195798.2:c.2483A>C