ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828103431
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1400941
ClinVar RCV Id:
RCV001911572
RCV003348595
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Asp251Val
CA789550
NM_001363695.2:c.752A>T