ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA120269
Gene: HMGCS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009844
ClinVar Variation:
9262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159579.1:p.Tyr167Cys
CA120266
NM_001166107.1:c.500A>G