Canonical Allele Identifier: PA916001825
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251079
ClinVar RCV Id: RCV000237232 RCV000775026 RCV001582800 RCV002429164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys75Ser
CA10584795
NM_001195803.2:c.223T>A
CA404075570
NM_001195803.2:c.224G>C