ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741817554
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2803181
ClinVar RCV Id:
RCV003679375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Gly217Ser
CA379475384
NM_000391.4:c.649G>A