ClinGen Allele Registry
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Canonical Allele Identifier:
PA210094
Gene: SCN4A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
34013
ClinVar RCV:
RCV000020280
RCV000201211
RCV000235040
ClinVar Variation:
21161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ser246Leu
CA210093
NM_000334.4:c.737C>T