ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580108144
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435752
ClinVar RCV Id:
RCV003136502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Leu735Trp
CA400630216
NM_000334.4:c.2204T>G