ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139746244
Gene: B3GALT6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
869985
ClinVar RCV Id:
RCV001089599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542172.2:p.Cys206Trp
CA513406
NM_080605.3:c.618C>G