ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915979821
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575957
ClinVar RCV Id:
RCV000698317
RCV002533520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Arg93His
CA21007514
NM_001142604.2:c.278G>A