Canonical Allele Identifier: PA645376217
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251251
ClinVar RCV Id: RCV000238199 RCV002518477
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro162Leu
CA10584943
NM_000527.5:c.485C>T