ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829122151
Gene: ACAT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000844805
ClinVar Variation:
666499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373607.1:p.Glu147del
CA6263207
NM_001386678.1:c.441_443del