ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825115883
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1493301
ClinVar RCV Id:
RCV001984269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Gly73Glu
CA339849619
NM_000310.4:c.218G>A