ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319215
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207594
ClinVar RCV Id:
RCV000189793
RCV000764996
RCV001274537
RCV002390502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Gln509Arg
CA319214
NM_000391.4:c.1526A>G