ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068374183
Gene: ABHD5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057090.2:p.Gln130Arg
CA352345745
NM_016006.6:c.389A>G