ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263542
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56211
ClinVar RCV Id:
RCV000049622
RCV001778693
RCV003328554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Phe225Ser
CA263540
NM_000310.4:c.674T>C