ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111244
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8902
ClinVar RCV Id:
RCV000009453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Leu219Gln
CA254581
NM_000310.4:c.656T>A