ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347425
Gene: KCNQ4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Ser269del
CA347424
NM_004700.4:c.806_808del