ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828182383
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_001352578.1:p.Glu219Lys
CA117427
NM_001365649.1:c.655G>A