ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319145
Gene: TPP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
202607
ClinVar RCV:
RCV000189748
RCV000726300
RCV001274548
RCV002314771
RCV003224212
ClinVar Variation:
207558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000382.3:p.Leu3Ile
CA319144
NM_000391.4:c.7C>A