ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827463775
Gene: B3GALNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6636
ClinVar RCV Id:
RCV000007015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336091.1:p.Glu386Ala
CA118380
NM_001349162.2:c.1157A>C