Canonical Allele Identifier: PA2826214671
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251617
ClinVar RCV Id: RCV000237443 RCV002411081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys184Ser
CA10585267
NM_001195800.2:c.550T>A
CA404082898
NM_001195800.2:c.551G>C