ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825404180
Gene: ABHD12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337996
ClinVar RCV Id:
RCV000326437
RCV001070173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035937.1:p.Ile112Phe
CA9796175
NM_001042472.3:c.334A>T