ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829123378
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2841
ClinVar RCV Id:
RCV000002975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373617.1:p.Glu255del
CA252466
NM_001386688.1:c.765_767del