ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826792710
Gene: KPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100680
ClinVar RCV Id:
RCV000087080
RCV000515002
RCV003415870
RCV003343637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278225.1:p.Met185_Gln190dup