Canonical Allele Identifier: PA2826216565
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251741
ClinVar RCV Id: RCV000237903 RCV003581617
ClinVar Variation Id: 251742
ClinVar RCV Id: RCV000238287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg283Ser
CA10585365
NM_001195803.2:c.849G>C
CA10585366
NM_001195803.2:c.849G>T