ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658668946
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477422
ClinVar RCV Id:
RCV000543330
RCV001551793
RCV004530586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg1460Trp
CA8708979
NM_000334.4:c.4378C>T