Canonical Allele Identifier: PA1139685811
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927435
ClinVar RCV Id: RCV001190740 RCV002504209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Met652Leu
CA404093158
NM_001195798.2:c.1954A>C
CA404093163
NM_001195798.2:c.1954A>T