ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043991
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236409
ClinVar RCV Id:
RCV000225429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Val236Glu
CA10581622
NM_001363695.2:c.707T>A