ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111366
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188857
ClinVar RCV Id:
RCV000169209
RCV002259317
RCV001723740
RCV002345567
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Val181Met
CA274047
NM_000310.4:c.541G>A