ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103055
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68746
ClinVar RCV Id:
RCV000059628
RCV000494361
RCV002281905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Arg127Gln
CA266188
NM_000391.4:c.380G>A