ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827647185
Gene: ALG9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339352.1:p.Arg335Trp
CA6274361
NM_001352423.2:c.1003C>T