ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830459455
Gene: ACACA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942135.1:p.Ala2193Val
CA8514532
NM_198838.2:c.6578C>T