ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826792718
Gene: KPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2200153
ClinVar RCV Id:
RCV002644055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278225.1:p.Ala205Thr
CA9540321
NM_001291296.2:c.613G>A