ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580489852
Gene: ABHD3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612213.2:p.Met390Thr
CA8907503
NM_138340.5:c.1169T>C