ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148604
Gene: ALG6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037471.2:p.Ser304Phe
CA148603
NM_013339.4:c.911C>T