ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826241350
Gene: ACSBG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2490040
ClinVar RCV Id:
RCV004273687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186306.1:p.Gly493Asp
CA393551704
NM_001199377.2:c.1478G>A