ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829237193
Gene: KLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001381789.1:p.Gly550Arg
CA7366154
NM_001394860.1:c.1648G>C
CA7366155
NM_001394860.1:c.1648G>A