Canonical Allele Identifier: PA100033
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226331
ClinVar RCV Id: RCV000211605 RCV000791440 RCV001596987 RCV002372213
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp221Asn
CA10576287
NM_000527.5:c.661G>A