ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573168196
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1443415
ClinVar RCV Id:
RCV001955590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Pro1263Leu
CA8709136
NM_000334.4:c.3788C>T