ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319190
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207581
ClinVar RCV Id:
RCV000189773
RCV000666770
RCV002485283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Asp276Val
CA319189
NM_000391.4:c.827A>T