ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139678447
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
961699
ClinVar RCV Id:
RCV001235435
RCV002484289
RCV003142202
RCV004033283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ile1468Val
CA8708971
NM_000334.4:c.4402A>G