ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645393652
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252925
ClinVar RCV Id:
RCV000239383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Ser218Phe
CA10586129
NM_000019.4:c.653C>T