ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: KLC1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000334523.6:p.Gly550Arg
CA7366154
ENST00000334553.11:c.1648G>C
CA7366155
ENST00000334553.11:c.1648G>A