ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100782
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_059111.2:p.Cys164Phe
CA269974
NM_017415.3:c.491G>T