Canonical Allele Identifier: PA103681
Gene: HMGCS2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005509.1:p.Arg500His
CA120258
NM_005518.4:c.1499G>A