ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103074
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68748
ClinVar RCV Id:
RCV000059630
RCV000469057
RCV001200081
RCV002354256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Arg206His
CA266190
NM_000391.4:c.617G>A