ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118382
Gene: B3GALNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_149359.1:p.Glu266Ala
NM_033169.3:c.797A>C