ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741973422
Gene: ALG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061982.3:p.Pro388Leu
CA394673939
NM_019109.4:c.1163C>T