ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580331796
Gene: HMGCS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2240505
ClinVar RCV Id:
RCV002742287
RCV003992724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005509.1:p.Ala215Val
CA1037834
NM_005518.4:c.644C>T