ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573090194
Gene: GMPPB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037466.3:p.Val357Ile
CA144570
NM_013334.4:c.1069G>A