Canonical Allele Identifier: PA2826216448
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251675
ClinVar RCV Id: RCV000237308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly247Ser
CA10585314
NM_001195803.2:c.739_740delinsTC
CA404083532
NM_001195803.2:c.739G>A