Canonical Allele Identifier: PA2827646742
Gene: ALG9 HGNC NCBI
ClinVar RCV:
RCV002932129
ClinVar Variation:
2048922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339347.1:p.Asn513Ser
CA6274357
NM_001352418.1:c.1538A>G