Canonical Allele Identifier: PA915999840
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440633
ClinVar RCV Id: RCV000508811
ClinVar Variation Id: 918996
ClinVar RCV Id: RCV001176919 RCV002480592
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Met412Leu
CA404084736
NM_001195798.2:c.1234A>T
CA404084738
NM_001195798.2:c.1234A>C