ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580339735
Gene: KPTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002644055
ClinVar Variation:
2200153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008990.2:p.Ala261Thr
CA9540321
NM_007059.4:c.781G>A