ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573298519
Gene: B3GALT6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1486810
ClinVar RCV Id:
RCV002003881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542172.2:p.Pro50Arg
CA337822885
NM_080605.3:c.149C>G