ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580445739
Gene: GMPPB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068806.2:p.Asn169Ser
CA2405539
NM_021971.4:c.506A>G