ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829122887
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2182600
ClinVar RCV Id:
RCV002592095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373614.1:p.Val305Leu
CA382508729
NM_001386685.1:c.913G>C