Canonical Allele Identifier: PA2826215347
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252017
ClinVar RCV Id: RCV000237752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ile417Asn
CA10585600
NM_001195800.2:c.1250T>A
CA2695228146
NM_001195800.2:c.1250_1251delinsAT