ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829122712
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2955781
ClinVar RCV Id:
RCV003810932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373611.1:p.Ile297Val
CA6263370
NM_001386682.1:c.889A>G