ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144552
Gene: GMPPB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068806.1:p.Asp334Asn
CA144551
NM_021971.2:c.1000G>A