ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091053
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2832
ClinVar RCV Id:
RCV000002966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Ala380Thr
CA252461
NM_000019.4:c.1138G>A