Canonical Allele Identifier: PA915998687
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251347
ClinVar RCV Id: RCV000237519 RCV003477850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys216Phe
CA10585036
NM_001195798.2:c.647G>T