ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828045657
Gene: ABHD5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5353
ClinVar RCV Id:
RCV000005682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342115.1:p.Glu260Lys
CA117427
NM_001355186.2:c.778G>A