ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319185
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207578
ClinVar RCV Id:
RCV000189770
RCV001274540
RCV001578829
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Ser213Leu
CA319184
NM_000391.4:c.638C>T