Canonical Allele Identifier: PA120250
Gene: HMGCS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9257
ClinVar RCV Id: RCV000009839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159579.1:p.Phe174Leu
CA120247
NM_001166107.1:c.520T>C
CA341864203
NM_001166107.1:c.522C>G
CA341864207
NM_001166107.1:c.522C>A