ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA091058
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2839
ClinVar RCV Id:
RCV000002973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Gly379Val
CA252465
NM_000019.4:c.1136G>T