ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246567
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198076
ClinVar RCV Id:
RCV000724258
RCV001275124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Arg175Cys
CA246566
NM_000391.4:c.523C>T