Canonical Allele Identifier: PA915998755
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251370
ClinVar RCV Id: RCV000238427 RCV003741172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys223Asn
CA10585058
NM_001195798.2:c.669G>C
CA404078373
NM_001195798.2:c.669G>T