ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453348
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429845
ClinVar RCV Id:
RCV000492837
RCV000764145
RCV001122194
RCV001122196
RCV001122193
RCV001252850
RCV001122195
RCV001122197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ala340Thr
CA8709973
NM_000334.4:c.1018G>A