ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453648
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
324519
ClinVar RCV Id:
RCV000288438
RCV000292167
RCV000352745
RCV000382835
RCV000388694
RCV003137926
RCV003352836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ile1428Val
CA8709023
NM_000334.4:c.4282A>G