ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828103376
Gene: PPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Glu178Val
CA339848482
NM_001363695.2:c.533A>T