ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319187
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207579
ClinVar RCV Id:
RCV000189771
RCV000764999
RCV001274539
RCV002317662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Arg259His
CA319186
NM_000391.4:c.776G>A