ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093944
Gene: ALG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061982.3:p.Arg331Cys
CA7890162
NM_019109.4:c.991C>T