Canonical Allele Identifier: PA916001267
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252320
ClinVar RCV Id: RCV000237210 RCV002446480
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu799Arg
CA10585850
NM_001195798.2:c.2396T>G