Canonical Allele Identifier: PA645416365
Gene: HMGCS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 292327
ClinVar RCV Id: RCV000342894 RCV000756249 RCV003910056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005509.1:p.Val508Ile
CA1037511
NM_005518.4:c.1522G>A