ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319226
Gene: TPP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
202578
ClinVar RCV:
RCV000384515
RCV000725967
ClinVar Variation:
207600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Arg266Trp
CA319225
NM_000391.4:c.796C>T