ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825805375
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56210
ClinVar RCV Id:
RCV000049621
RCV001192781
RCV001646987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Leu119Pro
CA263538
NM_001142604.2:c.356T>C