Canonical Allele Identifier: PA2826214047
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252293
ClinVar RCV Id: RCV000237632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg747Ser
CA10585832
NM_001195799.2:c.2241G>T
CA404096840
NM_001195799.2:c.2241G>C