Canonical Allele Identifier: PA916001594
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251216
ClinVar RCV Id: RCV000237168 RCV001201387 RCV002327171 RCV002461040 RCV004017543
ClinVar Variation Id: 251217
ClinVar RCV Id: RCV000237560 RCV000786159 RCV001243628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu99Asp
CA10584913
NM_001195799.2:c.297G>C
CA10584914
NM_001195799.2:c.297G>T