ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829122482
Gene: ACAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373610.1:p.Glu162del
CA6263207
NM_001386681.1:c.486_488del