ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830459130
Gene: ACACA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942133.1:p.Thr2210Ser
CA399239771
NM_198836.3:c.6628A>T