Canonical Allele Identifier: PA2826216737
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2768817
ClinVar RCV Id: RCV003581999
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ile346_Gly351delinsArg
CA2697556258
NM_001195803.2:c.1037_1051del