ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828103374
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56198
ClinVar RCV Id:
RCV000049609
RCV000188719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Gln177Glu
CA263516
NM_001363695.2:c.529C>G