ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144533
Gene: B3GALT6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
60494
ClinVar RCV Id:
RCV000054400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542172.2:p.Met139_Ala141del
CA144532
NM_080605.3:c.415_423del