ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827646250
Gene: ALG9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2014845
ClinVar RCV Id:
RCV002839168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339343.1:p.Pro280Arg
CA6274441
NM_001352414.2:c.839C>G