ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915979773
Gene: PPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Gln74Glu
CA263516
NM_001142604.2:c.220C>G