ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825115928
Gene: PPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Cys96Arg
CA339849198
NM_000310.4:c.286T>C