ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829122240
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1149909
ClinVar RCV Id:
RCV001490309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373608.1:p.Glu5Ala
CA476671826
NM_001386679.1:c.14A>C