ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093043
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
576206
ClinVar RCV Id:
RCV000698645
RCV002267623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ala1481Asp
CA400616016
NM_000334.4:c.4442C>A