ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA275376
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198381
ClinVar RCV Id:
RCV000179698
RCV000844797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Arg208Gln
CA275375
NM_000019.4:c.623G>A