ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453738
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
324514
ClinVar RCV Id:
RCV000286107
RCV000335223
RCV000374780
RCV000408219
RCV000534953
RCV002522999
RCV003137924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Pro1571Ser
CA8708910
NM_000334.4:c.4711C>T