ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580115528
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2136995
ClinVar RCV Id:
RCV003062332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Ser538Tyr
CA379472092
NM_000391.4:c.1613C>A