Canonical Allele Identifier: PA2826216453
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251679
ClinVar RCV Id: RCV000237921 RCV001063149 RCV002436076 RCV003391007
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Tyr248Cys
CA10585318
NM_001195803.2:c.743A>G