ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191285
Gene: ACADS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000008.1:p.Ala199Val
CA6830940
NM_000017.4:c.596C>T