ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645491458
Gene: ABHD12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337997
ClinVar RCV Id:
RCV000362453
RCV000997762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056415.1:p.Val68Ala
CA9796219
NM_015600.5:c.203T>C