Canonical Allele Identifier: PA916001347
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440698
ClinVar RCV Id: RCV000508976 RCV001293740
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys816Asn
CA404098878
NM_001195798.2:c.2448G>C
CA404098881
NM_001195798.2:c.2448G>T