Canonical Allele Identifier: PA645378106
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251682
ClinVar RCV Id: RCV000238163 RCV002321917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys377Ser
CA10585321
NM_000527.5:c.1130G>C
CA404083611
NM_000527.5:c.1129T>A
CA2497030183
NM_000527.5:c.1130_1131delinsCT