ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093362
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006256
RCV000006257
RCV000516497
RCV000763018
ClinVar Variation:
5897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Met1592Val
CA117834
NM_000334.4:c.4774A>G