ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580386439
Gene: ABHD5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2109778
ClinVar RCV Id:
RCV003020078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057090.2:p.Leu278Val
CA352347528
NM_016006.6:c.832C>G