Canonical Allele Identifier: PA2826215894
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161265
ClinVar RCV Id: RCV000237920 RCV001228564 RCV002051658 RCV002305450 RCV002444605
ClinVar Variation Id: 252341
ClinVar RCV Id: RCV000238314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Asn657Lys
CA023675
NM_001195800.2:c.1971C>G
CA040801
NM_001195800.2:c.1971C>A