Canonical Allele Identifier: PA645378405
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251771
ClinVar RCV Id: RCV000238373
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp433del
CA10585390
NM_000527.5:c.1296_1298del