ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953525
Gene: ACAT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000844814
ClinVar Variation:
666507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Asn282His
CA6263234
NM_000019.4:c.844A>C