Canonical Allele Identifier: PA2826217167
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252099
ClinVar RCV Id: RCV000238461 RCV000775079 RCV002509336 RCV003477857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asn498Thr
CA10585669
NM_001195803.2:c.1493A>C