ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829951839
Gene: B3GALT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066191.1:p.Thr196Ile
CA349250015
NM_020981.4:c.587C>T