ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139732686
Gene: ALG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061982.3:p.Val316Ile
CA7890118
NM_019109.4:c.946G>A