ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100973
Gene: KLHL40
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689606.2:p.Ala538Pro
CA214762
NM_152393.3:c.1612G>C