Canonical Allele Identifier: PA2826217162
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252097
ClinVar RCV Id: RCV000237415 RCV001042592 RCV002411102 RCV003477856
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ile497del
CA10585667
NM_001195803.2:c.1490_1492del