ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573168186
Gene: SCN4A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002043839
ClinVar Variation:
1519997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg1129Pro
CA292962517
NM_000334.4:c.3386G>C