ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139684588
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
956723
ClinVar RCV Id:
RCV001229583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Gln394Leu
CA379473079
NM_000391.4:c.1181A>T