ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573283797
Gene: KLC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001874493
ClinVar Variation:
1368785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073733.1:p.Thr231Met
CA6117157
NM_022822.3:c.692C>T