ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341657
Gene: KCNA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000208.2:p.Phe250del
CA341656
NM_000217.3:c.748_750del