ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580502432
Gene: B3GALT6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542172.2:p.Ala103Val
CA337824304
NM_080605.3:c.308C>T