ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830459292
Gene: ACACA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942134.1:p.Ala2213Val
CA8514532
NM_198837.2:c.6638C>T