ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645391248
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382690
ClinVar RCV Id:
RCV000437106
RCV001375972
RCV002313067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Thr353Asn
CA5858785
NM_000391.4:c.1058C>A