ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111300
Gene: PPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000301.1:p.Thr75Pro
NM_000310.4:c.223A>C