ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139704648
Gene: GGPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004828.1:p.Arg261His
CA344975674
NM_004837.4:c.782G>A