ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825805500
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954949
ClinVar RCV Id:
RCV001227499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Ser190Phe
CA20999062
NM_001142604.2:c.569C>T