ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573314357
Gene: ACACA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942131.1:p.Thr2247Ser
CA399239771
NM_198834.3:c.6739A>T