ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068374247
Gene: GOLGB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004478.3:p.Pro1249Ser
CA2566310
NM_004487.5:c.3745C>T