Canonical Allele Identifier: PA915999242
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226337
ClinVar RCV Id: RCV000211683 RCV000786353 RCV001179372 RCV002372215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser306Leu
CA10576291
NM_001195798.2:c.917C>T