ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741973386
Gene: ALG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061982.3:p.Ser71Cys
CA394678992
NM_019109.4:c.212C>G