ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580516253
Gene: ABHD11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_683710.2:p.Thr212Ile
CA367853170
NM_148912.4:c.635C>T