Canonical Allele Identifier: PA915999725
Gene: LDLR HGNC NCBI
ClinVar Allele:
434282
ClinVar RCV:
RCV000508828
ClinVar Variation:
440630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly396Asp
CA404084653
NM_001195798.2:c.1187G>A