ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825805125
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1958270
ClinVar RCV Id:
RCV002725425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Ala2Val
CA789869
NM_001142604.2:c.5C>T