ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499260702
Gene: KCNA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1055873
ClinVar RCV Id:
RCV001364617
RCV002473281
RCV003416267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002225.2:p.Ser498Leu
CA6399878
NM_002234.4:c.1493C>T