ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA091052
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2845
ClinVar RCV Id:
RCV000002979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Ala333Pro
CA252471
NM_000019.4:c.997G>C