ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845968
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
586522
ClinVar RCV Id:
RCV000713116
RCV003152729
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Leu1587Phe
CA400615035
NM_000334.4:c.4759C>T