ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658679788
Gene: KCNA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
469581
ClinVar RCV Id:
RCV000532173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002225.2:p.Pro347Ser
CA6399792
NM_002234.4:c.1039C>T