ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111253
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56210
ClinVar RCV Id:
RCV000049621
RCV001192781
RCV001646987
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Leu222Pro
CA263538
NM_000310.4:c.665T>C