ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826435240
Gene: KLHL3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30518
ClinVar RCV Id:
RCV000023475
RCV000128519
RCV002513190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244124.1:p.Arg446His
CA129303
NM_001257195.2:c.1337G>A