ClinGen Allele Registry
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Canonical Allele Identifier:
PA658668888
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000554442
RCV002483501
RCV003139863
RCV004024399
ClinVar Variation:
477412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Leu1020Val
CA8709403
NM_000334.4:c.3058C>G