ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826226530
Gene: ACY1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185825.1:p.Arg306Trp
CA2428769
NM_001198896.2:c.916C>T