Canonical Allele Identifier: PA2826216460
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 438323
ClinVar RCV Id: RCV000505209 RCV002323869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys250Phe
CA404083621
NM_001195803.2:c.749G>T