ClinGen Allele Registry
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Canonical Allele Identifier:
PA915982467
Gene: KLHL3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100533
ClinVar RCV Id:
RCV000128505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244124.1:p.Cys82Phe
CA269974
NM_001257195.2:c.245G>T