ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139761434
Gene: B3GALNT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
968878
ClinVar RCV Id:
RCV001244113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689703.1:p.Val90Leu
CA1464952
NM_152490.5:c.268G>C
CA1464953
NM_152490.5:c.268G>T