ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829122192
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_001373607.1:p.Glu240del
CA252466
NM_001386678.1:c.720_722del