ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483533
Gene: GMPPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_995319.1:p.Pro64Ser
CA2128059
NM_205847.3:c.190C>T