ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645391333
Gene: TPP1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000382.3:p.Arg447Cys
NM_000391.4:c.1339C>T