Canonical Allele Identifier: PA319193
Gene: TPP1 HGNC NCBI
ClinVar RCV:
RCV000189775
ClinVar Variation:
207583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000382.3:p.Ser282Asn
CA319192
NM_000391.4:c.845G>A