ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111193
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8907
ClinVar RCV Id:
RCV000009458
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Gly108Arg
CA254588
NM_000310.4:c.322G>C