ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826435230
Gene: KLHL3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000128503
ClinVar Variation:
100531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244124.1:p.Ala412Thr
CA269972
NM_001257195.2:c.1234G>A