ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829737058
Gene: GMPPB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037466.3:p.Arg243Gln
CA2405464
NM_013334.4:c.728G>A