ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658715631
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488626
ClinVar RCV Id:
RCV000578444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Ser445_Ala448dup
CA658683685
NM_000391.4:c.1333_1344dup