ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658818138
Gene: B4GAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
541277
ClinVar RCV Id:
RCV000651509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006867.1:p.Tyr222Cys
CA6120523
NM_006876.3:c.665A>G