ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827647162
Gene: ALG9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2147528
ClinVar RCV Id:
RCV003077238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339352.1:p.Arg250Lys
CA382592410
NM_001352423.2:c.749G>A