ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043950
Gene: PPT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000225611
ClinVar Variation:
236408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Cys45Arg
CA10581624
NM_001363695.2:c.133T>C