ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580449100
Gene: ALG9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079016.2:p.Leu487Pro
CA382591984
NM_024740.2:c.1460T>C