ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139678325
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
965335
ClinVar RCV Id:
RCV001239764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ser1434Tyr
CA400616277
NM_000334.4:c.4301C>A