Canonical Allele Identifier: PA645379850
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252101
ClinVar RCV Id: RCV000237476 RCV001048311 RCV003477858 RCV004020971
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala627Thr
CA10585671
NM_000527.5:c.1879G>A