Canonical Allele Identifier: PA915999311
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251567
ClinVar RCV Id: RCV000237913 RCV001176042 RCV001699171 RCV004020956
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu317Lys
CA030891
NM_001195798.2:c.949G>A