Canonical Allele Identifier: PA2826213134
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251766
ClinVar RCV Id: RCV000238106 RCV001526181 RCV004020963
ClinVar Variation Id: 2743216
ClinVar RCV Id: RCV003582733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asn387Lys
CA10585385
NM_001195799.2:c.1161C>G
CA404084922
NM_001195799.2:c.1161C>A