ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043980
Gene: PPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Gly145Arg
CA245091
NM_001363695.2:c.433G>C