Canonical Allele Identifier: PA2826217123
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252053
ClinVar RCV Id: RCV000237803 RCV000791980
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ser483del
CA10585635
NM_001195803.2:c.1448_1450del