ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658668854
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000528925
RCV001559485
RCV004530585
ClinVar Variation:
477404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Val730Met
CA8709641
NM_000334.4:c.2188G>A