ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111342
Gene: PPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Tyr247His
CA263546
NM_000310.4:c.739T>C