ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916072715
Gene: ALG8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_076984.2:p.Ile228Val
CA6203370
NM_024079.5:c.682A>G