Canonical Allele Identifier: PA916001067
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 328053
ClinVar RCV Id: RCV000352480 RCV000775088 RCV000712213 RCV003330641
ClinVar Variation Id: 2057364
ClinVar RCV Id: RCV002923322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Met702Ile
CA038604
NM_001195798.2:c.2106G>A
CA038621
NM_001195798.2:c.2106G>C
CA404093934
NM_001195798.2:c.2106G>T