Canonical Allele Identifier: PA2826213583
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919923
ClinVar RCV Id: RCV001178399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asn550Ser
CA036573
NM_001195799.2:c.1649A>G
CA1139666274
NM_001195799.2:c.1649_1650delinsGT