ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252861
Gene: ALG9
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_079016.2:p.Glu530Lys
NM_024740.2:c.1588G>A