ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103331
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68741
ClinVar RCV Id:
RCV000059623
RCV000800616
RCV002307388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Ser475Leu
CA266184
NM_000391.4:c.1424C>T