Canonical Allele Identifier: PA2826213090
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251746
ClinVar RCV Id: RCV000237586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Met371Ile
CA10585370
NM_001195799.2:c.1113G>A
CA404084741
NM_001195799.2:c.1113G>C
CA404084742
NM_001195799.2:c.1113G>T