ClinGen Allele Registry
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Canonical Allele Identifier:
PA916021752
Gene: ABHD14A-ACY1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18110
ClinVar RCV Id:
RCV000019738
RCV000514755
RCV004017259
RCV002222357
RCV002514118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303260.1:p.Arg443Cys
CA127826
NM_001316331.2:c.1327C>T