ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580115523
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2023941
ClinVar RCV Id:
RCV002862946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Glu529Lys
CA379472156
NM_000391.4:c.1585G>A