Canonical Allele Identifier: PA2826214485
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1764981
ClinVar RCV Id: RCV002375991 RCV003100047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys128Trp
CA404080941
NM_001195800.2:c.384C>G