ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827646618
Gene: ALG9
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002932129
ClinVar Variation:
2048922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339346.1:p.Asn554Ser
CA6274357
NM_001352417.1:c.1661A>G