ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829123571
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2182600
ClinVar RCV Id:
RCV002592095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373618.1:p.Val305Leu
CA382508729
NM_001386689.1:c.913G>C