ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573080709
Gene: B4GALNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001469.1:p.Val344Ala
CA385496001
NM_001478.5:c.1031T>C