Canonical Allele Identifier: PA2499241688
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1172241
ClinVar RCV Id: RCV001525940
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asn594Lys
CA305301777
NM_001195798.2:c.1782C>G
CA404089777
NM_001195798.2:c.1782C>A