ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091055
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2843
ClinVar RCV Id:
RCV000002977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Asn93Ser
CA252469
NM_000019.4:c.278A>G