ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239688
Gene: B3GLCT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919299.3:p.Thr311Ile
CA239687
NM_194318.4:c.932C>T