Canonical Allele Identifier: PA915998501
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251266
ClinVar RCV Id: RCV000238587 RCV001385842 RCV002338784
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp172Asn
CA10584957
NM_001195798.2:c.514G>A