ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828103382
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188857
ClinVar RCV Id:
RCV000169209
RCV002259317
RCV001723740
RCV002345567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Val181Met
CA274047
NM_001363695.2:c.541G>A