ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825805433
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56215
ClinVar RCV Id:
RCV000049626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Gly147Val
CA263548
NM_001142604.2:c.440G>T