ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117423
Gene: ABHD5
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_057090.2:p.Ser33Ter
NM_016006.6:c.98C>A
NM_016006.6:c.98C>G