ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826996657
Gene: KLC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1484788
ClinVar RCV Id:
RCV002030243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305663.1:p.Arg506Cys
CA6117475
NM_001318734.2:c.1516C>T