ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319199
Gene: TPP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207586
ClinVar RCV Id:
RCV000189779
RCV001329231
RCV002317664
RCV003401035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Arg339Trp
CA319198
NM_000391.4:c.1015C>T